#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
MTOR	2475	broad.mit.edu	37	1	11188183	11188183	+	Splice_Site	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:11188183C>T	ENST00000361445.4	-	43	5987	c.5911G>A	c.(5911-5913)Gcc>Acc	p.A1971T	MTOR_ENST00000376838.1_Splice_Site_p.A176T	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1971	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TAGATGAGGGCCTGAGGGAAA	0.458																																						uc001asd.3																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.e43-1		Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.							102.0	107.0	105.0					1																	11188183		2203	4300	6503	SO:0001630	splice_region_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11188183C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5911-1G>A	1.37:g.11188183C>T						MTOR_uc001asc.3_Splice_Site_p.A176_splice	p.A1971_splice	NM_004958	NP_004949	P42345	MTOR_HUMAN			43	6032	-			1971			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5911_splice	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236875	0.95240	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93246	0.6630	10	0.87932	D	0	-21.096	20.063	0.97692	0.0:1.0:0.0:0.0	.	1971	P42345	MTOR_HUMAN	T	1971;176	ENSP00000354558:A1971T;ENSP00000366034:A176T	ENSP00000354558:A1971T	A	-	1	0	MTOR	11110770	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.263000	0.78421	2.735000	0.93741	0.655000	0.94253	GCC		0.458	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	Missense_Mutation
C1QC	714	broad.mit.edu	37	1	22973963	22973963	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:22973963C>T	ENST00000374639.3	+	3	543	c.425C>T	c.(424-426)gCg>gTg	p.A142V	C1QC_ENST00000374637.1_Missense_Mutation_p.A142V|C1QC_ENST00000374640.4_Missense_Mutation_p.A142V	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	142	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGATTCAACGCGGTCCTCACC	0.567																																					Ovarian(26;671 750 8290 29071 43278)	uc001bgc.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(424-426)gCg>gTg		Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						85.0	80.0	82.0					1																	22973963		2203	4300	6503	SO:0001583	missense	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973963C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.425C>T	1.37:g.22973963C>T	ENSP00000363770:p.Ala142Val					C1QC_uc001bga.4_Missense_Mutation_p.A142V	p.A142V	NM_172369	NP_758957	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	2	528	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	142			C1q.		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	c.425C>T	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	7.130	0.579626	0.13686	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.75154	-0.91;-0.91;-0.91	4.74	-2.41	0.06562	Tumour necrosis factor-like (2);Complement C1q protein (4);	2.595320	0.02172	N	0.059739	T	0.38612	0.1047	N	0.01048	-1.04	0.09310	N	1	P	0.36065	0.535	B	0.30251	0.113	T	0.29150	-1.0021	10	0.37606	T	0.19	.	1.0667	0.01612	0.2091:0.2302:0.3319:0.2288	.	142	P02747	C1QC_HUMAN	V	142	ENSP00000363771:A142V;ENSP00000363770:A142V;ENSP00000363768:A142V	ENSP00000363768:A142V	A	+	2	0	C1QC	22846550	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.360000	0.02600	-0.921000	0.03794	0.561000	0.74099	GCG		0.567	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369	
SPOCD1	90853	broad.mit.edu	37	1	32279589	32279589	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:32279589C>T	ENST00000360482.2	-	2	1475	c.1346G>A	c.(1345-1347)aGg>aAg	p.R449K	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R449K|SPOCD1_ENST00000373648.2_Missense_Mutation_p.R449K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	449					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCCTCTGGCCTGTCCTGGTG	0.567																																						uc001bts.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(1345-1347)aGg>aAg		Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.							75.0	77.0	76.0					1																	32279589		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32279589C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1346G>A	1.37:g.32279589C>T	ENSP00000353670:p.Arg449Lys					SPOCD1_uc001btu.3_Missense_Mutation_p.R449K|SPOCD1_uc001btv.3_Intron	p.R449K	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	1	1404	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	449					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.1346G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	6.454	0.451911	0.12283	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.29917	1.98;1.55;1.98	3.8	0.232	0.15381	.	.	.	.	.	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35226	-0.9797	9	0.05351	T	0.99	0.3001	5.8581	0.18730	0.0:0.3792:0.0:0.6208	.	449;449	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	K	449	ENSP00000353670:R449K;ENSP00000362752:R449K;ENSP00000435851:R449K	ENSP00000353670:R449K	R	-	2	0	SPOCD1	32052176	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	0.060000	0.14342	0.014000	0.14944	-0.391000	0.06502	AGG		0.567	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	
LPAR3	23566	broad.mit.edu	37	1	85331474	85331474	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85331474G>A	ENST00000440886.1	-	1	368	c.330C>T	c.(328-330)gaC>gaT	p.D110D	LPAR3_ENST00000370611.3_Silent_p.D110D|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	110					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCAAGCTACTGTCCAGAAGCC	0.493																																						uc001dkl.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(328-330)gaC>gaT		Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.							177.0	184.0	181.0					1																	85331474		2203	4300	6503	SO:0001819	synonymous_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331474G>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.330C>T	1.37:g.85331474G>A						LPAR3_uc009wcj.1_Silent_p.D110D	p.D110D	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			0	369	-			110					A0AVA3	Silent	SNP	ENST00000440886.1	37	c.330C>T	CCDS700.1																																																																																				0.493	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
WDR63	126820	broad.mit.edu	37	1	85564213	85564213	+	Splice_Site	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85564213C>G	ENST00000294664.6	+	13	1531	c.1351C>G	c.(1351-1353)Cct>Gct	p.P451A	WDR63_ENST00000370596.1_Splice_Site_p.P412A|WDR63_ENST00000326813.8_Splice_Site_p.P412A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	451										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATTTTTCAGCCTATGTTTCT	0.318																																						uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.e13-1		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							81.0	88.0	86.0					1																	85564213		2203	4299	6502	SO:0001630	splice_region_variant	126820							g.chr1:85564213C>G		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1351-1C>G	1.37:g.85564213C>G						WDR63_uc009wcl.3_Splice_Site_p.P412_splice	p.P451_splice	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	13	1542	+			451					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1351_splice	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086248	0.36855	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.64618	-0.11;-0.11;-0.11	6.02	6.02	0.97574	WD40 repeat-like-containing domain (1);	0.409093	0.29185	N	0.012882	T	0.42630	0.1211	L	0.48986	1.54	0.47009	D	0.999289	P;B	0.35011	0.48;0.33	B;B	0.31442	0.13;0.057	T	0.37888	-0.9686	9	.	.	.	-19.1443	14.919	0.70822	0.1432:0.8568:0.0:0.0	.	412;451	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	A	412;412;451	ENSP00000359628:P412A;ENSP00000317463:P412A;ENSP00000294664:P451A	.	P	+	1	0	WDR63	85336801	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.469000	0.53093	2.857000	0.98124	0.650000	0.86243	CCT		0.318	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	Missense_Mutation
ADAM30	11085	broad.mit.edu	37	1	120438173	120438173	+	Missense_Mutation	SNP	G	G	A	rs200088734		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:120438173G>A	ENST00000369400.1	-	1	945	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATCCAACGCGTATTTTGTTA	0.358																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(787-789)Cgc>Tgc		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							71.0	75.0	74.0					1																	120438173		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438173G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.787C>T	1.37:g.120438173G>A	ENSP00000358407:p.Arg263Cys						p.R263C	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	975	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	263			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.787C>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305153	0.40795	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10288	2.89	4.59	-4.04	0.04010	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.100920	0.02924	N	0.138395	T	0.07818	0.0196	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	D	0.63488	0.915	T	0.16305	-1.0407	10	0.54805	T	0.06	.	1.2267	0.01934	0.1532:0.3261:0.2621:0.2586	.	263	Q9UKF2	ADA30_HUMAN	C	263	ENSP00000358407:R263C	ENSP00000358407:R263C	R	-	1	0	ADAM30	120239696	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.244000	0.02902	-0.640000	0.05495	-0.471000	0.05019	CGC		0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
FLG	2312	broad.mit.edu	37	1	152277058	152277058	+	Missense_Mutation	SNP	C	C	T	rs576274425		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:152277058C>T	ENST00000368799.1	-	3	10339	c.10304G>A	c.(10303-10305)cGt>cAt	p.R3435H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3435	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGGTGTCCACGAATGGTGTC	0.602									Ichthyosis				C|||	1	0.000199681	0.0	0.0	5008	,	,		18804	0.0		0.001	False		,,,				2504	0.0					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10303-10305)cGt>cAt		Homo sapiens filaggrin (FLG), mRNA.							288.0	290.0	289.0					1																	152277058		2203	4299	6502	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277058C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10304G>A	1.37:g.152277058C>T	ENSP00000357789:p.Arg3435His						p.R3435H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	10340	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3435			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10304G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.735	0.700086	0.15106	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	4.17	-8.11	0.01082	.	.	.	.	.	T	0.00496	0.0016	L	0.45581	1.43	0.09310	N	1	B	0.27971	0.196	B	0.17979	0.02	T	0.39461	-0.9613	9	0.41790	T	0.15	0.0252	5.3339	0.15947	0.2074:0.2967:0.0:0.4959	.	3435	P20930	FILA_HUMAN	H	3435	ENSP00000357789:R3435H	ENSP00000357789:R3435H	R	-	2	0	FLG	150543682	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.075000	0.00300	-1.891000	0.01109	-0.717000	0.03617	CGT		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
PTEN	5728	broad.mit.edu	37	10	89690805	89690805	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:89690805G>A	ENST00000371953.3	+	4	1569	c.212G>A	c.(211-213)tGt>tAt	p.C71Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	71	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71Y(3)|p.Y27fs*1(2)|p.C71fs*6(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTTAGTTGTGCTGAAAGA	0.303		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		59	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(6)|Substitution - Missense(3)	p.0?(37)|p.L70fs*7(8)|p.?(6)|p.C71Y(6)|p.R55fs*1(5)|p.C71fs*6(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L70P(1)|p.L70F(1)|p.C71W(1)|p.R55_L70>S(1)|p.F56fs*2(1)|p.C71fs*28(1)	prostate(16)|central_nervous_system(15)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(211-213)tGt>tAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							73.0	69.0	70.0					10																	89690805		2202	4293	6495	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89690805G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.212G>A	10.37:g.89690805G>A	ENSP00000361021:p.Cys71Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.C71Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1244	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	71		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.212G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856167	0.91355	.	.	ENSG00000171862	ENST00000371953	D	0.98512	-4.97	5.62	5.62	0.85841	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98521	1.0623	9	.	.	.	-8.6451	20.0185	0.97487	0.0:0.0:1.0:0.0	.	71	P60484	PTEN_HUMAN	Y	71	ENSP00000361021:C71Y	.	C	+	2	0	PTEN	89680785	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	TGT		0.303	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CPN1	1369	broad.mit.edu	37	10	101835788	101835788	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:101835788C>T	ENST00000370418.3	-	2	551	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	100	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACAGAAACTCCGACAGCTGCA	0.582																																						uc001kql.2																			0		p.S100L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(298-300)tcG>tcA		Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.							136.0	113.0	121.0					10																	101835788		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835788C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.300G>A	10.37:g.101835788C>T							p.S100S	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	1	560	-		Colorectal(252;0.234)	100			Catalytic.		B1AP59	Silent	SNP	ENST00000370418.3	37	c.300G>A	CCDS7486.1																																																																																				0.582	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308	
GTF2H1	2965	broad.mit.edu	37	11	18369172	18369172	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:18369172C>G	ENST00000265963.4	+	8	1035	c.875C>G	c.(874-876)tCt>tGt	p.S292C	GTF2H1_ENST00000524753.4_Missense_Mutation_p.S88C|GTF2H1_ENST00000530496.2_5'UTR|GTF2H1_ENST00000534641.1_Missense_Mutation_p.S176C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.S292C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	292				S -> P (in Ref. 2; BAB15621). {ECO:0000305}.	7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCTTCCAATTCTAAATCCATA	0.363								Nucleotide excision repair (NER)																														uc001moi.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(874-876)tCt>tGt	Nucleotide excision repair (NER)	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.							56.0	54.0	55.0					11																	18369172		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18369172C>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.875C>G	11.37:g.18369172C>G	ENSP00000265963:p.Ser292Cys					GTF2H1_uc001moh.2_Missense_Mutation_p.S292C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S176C	p.S292C	NM_001142307	NP_005307	P32780	TF2H1_HUMAN			8	1569	+			292	S -> P (in Ref. 2; BAB15621).				B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.875C>G	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019527	0.75275	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753	T;T;T;T	0.34072	1.8;1.82;1.8;1.38	5.71	5.71	0.89125	.	0.282997	0.41396	D	0.000895	T	0.44477	0.1295	L	0.50333	1.59	0.80722	D	1	P	0.51537	0.946	P	0.49683	0.619	T	0.32981	-0.9886	10	0.56958	D	0.05	-12.1001	16.1334	0.81461	0.0:0.8665:0.1334:0.0	.	292	P32780	TF2H1_HUMAN	C	292;176;292;88	ENSP00000393638:S292C;ENSP00000435375:S176C;ENSP00000265963:S292C;ENSP00000436575:S88C	ENSP00000265963:S292C	S	+	2	0	GTF2H1	18325748	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.935000	0.48963	2.686000	0.91538	0.655000	0.94253	TCT		0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316	
DEPDC7	91614	broad.mit.edu	37	11	33049298	33049299	+	Frame_Shift_Del	DEL	TC	TC	-	rs200200424		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:33049298_33049299delTC	ENST00000241051.3	+	3	623_624	c.531_532delTC	c.(529-534)aatctgfs	p.L178fs	DEPDC7_ENST00000311388.3_Frame_Shift_Del_p.L169fs	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	178					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TGTGggaaaatctgagtttaaa	0.376																																						uc001mub.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(529-534)aatctgfs		Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33049298_33049299delTC		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.531_532delTC	11.37:g.33049298_33049299delTC	ENSP00000241051:p.Leu178fs					DEPDC7_uc010reh.1_Frame_Shift_Del_p.N177fs|DEPDC7_uc001muc.3_Frame_Shift_Del_p.N168fs	p.N177fs	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN			2	623_624	+			177					G5E941|Q8N602|Q8NCU9|Q9UGK5	Frame_Shift_Del	DEL	ENST00000241051.3	37	c.531_532delTC	CCDS41632.1																																																																																				0.376	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160	
NUMA1	4926	broad.mit.edu	37	11	71729878	71729878	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:71729878T>C	ENST00000393695.3	-	10	1064	c.733A>G	c.(733-735)Acc>Gcc	p.T245A	NUMA1_ENST00000351960.6_Missense_Mutation_p.T245A|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.T245A	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCTCGGTGAGGAGCTTG	0.577			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(733-735)Acc>Gcc		Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.							100.0	93.0	96.0					11																	71729878		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729878T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.733A>G	11.37:g.71729878T>C	ENSP00000377298:p.Thr245Ala					NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.T245A|NUMA1_uc001orm.1_Missense_Mutation_p.T245A|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.T245A|NUMA1_uc001oro.1_Missense_Mutation_p.T245A|NUMA1_uc009ysy.2_Missense_Mutation_p.T245A|NUMA1_uc001orp.3_Missense_Mutation_p.T245A|NUMA1_uc001orq.3_Missense_Mutation_p.T245A	p.T245A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			9	905	-			245						Missense_Mutation	SNP	ENST00000393695.3	37	c.733A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616003	0.28801	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.39406	2.34;2.9;2.89;1.67;1.08	5.98	4.86	0.63082	.	0.218091	0.42294	D	0.000725	T	0.15955	0.0384	N	0.04880	-0.145	0.23016	N	0.998424	B;B;B;B;B;B	0.31318	0.222;0.004;0.004;0.007;0.319;0.001	B;B;B;B;B;B	0.26416	0.054;0.009;0.009;0.003;0.069;0.002	T	0.20907	-1.0261	10	0.08599	T	0.76	.	5.8805	0.18852	0.0:0.2414:0.0:0.7586	.	245;245;245;245;245;245	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	A	245	ENSP00000260051:T245A;ENSP00000351851:T245A;ENSP00000377298:T245A;ENSP00000444880:T245A;ENSP00000442936:T245A	ENSP00000260051:T245A	T	-	1	0	NUMA1	71407526	0.777000	0.28628	0.995000	0.50966	0.972000	0.66771	0.809000	0.27168	2.289000	0.77006	0.533000	0.62120	ACC		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
MMP3	4314	broad.mit.edu	37	11	102713433	102713433	+	Missense_Mutation	SNP	G	G	A	rs151123532		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:102713433G>A	ENST00000299855.5	-	2	576	c.320C>T	c.(319-321)cCg>cTg	p.P107L		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	107					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CCTCCACTTCGGGATGCCAGG	0.473																																						uc001phj.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(319-321)cCg>cTg		Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	Marimastat(DB00786)|Simvastatin(DB00641)	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	68.0	64.0	65.0		320	6.2	0.3	11	dbSNP_134	65	0,8598	1.2+/-3.3	0,0,4299	no	missense	MMP3	NM_002422.3	98	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	107/478	102713433	1,13003	2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713433G>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.320C>T	11.37:g.102713433G>A	ENSP00000299855:p.Pro107Leu						p.P107L	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	1	385	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	107					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.320C>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247243	0.39697	2.27E-4	0.0	ENSG00000149968	ENST00000299855	T	0.15256	2.44	6.16	6.16	0.99307	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.298737	0.23389	N	0.048716	T	0.34135	0.0887	L	0.55743	1.74	0.40374	D	0.979378	D	0.76494	0.999	P	0.61477	0.889	T	0.01102	-1.1451	10	0.62326	D	0.03	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	107	P08254	MMP3_HUMAN	L	107	ENSP00000299855:P107L	ENSP00000299855:P107L	P	-	2	0	MMP3	102218643	0.981000	0.34729	0.254000	0.24359	0.040000	0.13550	2.794000	0.47853	2.937000	0.99478	0.650000	0.86243	CCG		0.473	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	
KDM5A	5927	broad.mit.edu	37	12	416884	416884	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:416884C>T	ENST00000399788.2	-	23	4028	c.3666G>A	c.(3664-3666)agG>agA	p.R1222R	KDM5A_ENST00000382815.4_Silent_p.R1222R	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1222					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGTCTCTAGCCTGGGCCTTC	0.478			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3664-3666)agG>agA		Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.							77.0	77.0	77.0					12																	416884		1901	4104	6005	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416884C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3666G>A	12.37:g.416884C>T							p.R1222R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			22	4029	-			1222					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.3666G>A	CCDS41736.1																																																																																				0.478	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
RERGL	79785	broad.mit.edu	37	12	18237478	18237478	+	Missense_Mutation	SNP	C	C	T	rs61757396	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:18237478C>T	ENST00000229002.2	-	5	514	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.R102Q	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	103	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.R103Q(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTGGCTCCCGGATTCTGTA	0.383													C|||	7	0.00139776	0.0053	0.0	5008	,	,		17166	0.0		0.0	False		,,,				2504	0.0					uc001rdq.3																			2	Substitution - Missense(2)	p.R103Q(3)	lung(2)	endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(307-309)cGg>cAg		Homo sapiens RERG/RAS-like (RERGL), mRNA.		C	GLN/ARG	19,4387	27.2+/-55.0	0,19,2184	136.0	137.0	137.0		308	4.9	1.0	12	dbSNP_129	137	0,8600		0,0,4300	yes	missense	RERGL	NM_024730.2	43	0,19,6484	TT,TC,CC		0.0,0.4312,0.1461	possibly-damaging	103/206	18237478	19,12987	2203	4300	6503	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237478C>T	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.308G>A	12.37:g.18237478C>T	ENSP00000229002:p.Arg103Gln						p.R103Q	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			4	502	-			103			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.308G>A	CCDS8679.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	10.61	1.397490	0.25205	0.004312	0.0	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.80214	-1.35;-1.35	4.91	4.91	0.64330	.	0.132040	0.52532	D	0.000066	T	0.65964	0.2742	L	0.35249	1.045	0.80722	D	1	B;P	0.37573	0.076;0.6	B;B	0.30316	0.021;0.114	T	0.64097	-0.6487	10	0.12766	T	0.61	.	12.6956	0.57001	0.0:0.9189:0.0:0.0811	rs61757396	102;103	F5H686;Q9H628	.;RERGL_HUMAN	Q	103;102	ENSP00000229002:R103Q;ENSP00000437814:R102Q	ENSP00000229002:R103Q	R	-	2	0	RERGL	18128745	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	2.464000	0.45067	2.660000	0.90430	0.467000	0.42956	CGG		0.383	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730	
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	IGR	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr13:75814354C>G								AL162571.1 (31181 upstream) : LINC01078 (10261 downstream)																							CCACCAGTTCCCATGGAAAAC	0.488																																						uc010ths.2																			0											c.(121-123)tgG>tgC		Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																																				SO:0001628	intergenic_variant	647288							g.chr13:75814354C>G																													13.37:g.75814354C>G							p.W41C							0	164	-									Missense_Mutation	SNP		37	c.123G>C																																																																																				0	0.488								
LMO7	4008	broad.mit.edu	37	13	76301190	76301190	+	Missense_Mutation	SNP	G	G	A	rs140368500		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr13:76301190G>A	ENST00000341547.4	+	4	1582	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.V108I|LMO7_ENST00000377534.3_Missense_Mutation_p.V108I	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	108	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V108I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAACCTGGCGTCATTAAGAA	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17245	0.0		0.0	False		,,,				2504	0.0					uc021rkq.1																			1	Substitution - Missense(1)	p.V108I(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(166-168)Gtc>Atc		Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.		G	ILE/VAL	0,4406		0,0,2203	84.0	78.0	80.0		322	-8.0	0.0	13	dbSNP_134	80	2,8596	2.2+/-6.3	0,2,4297	yes	missense	LMO7	NM_005358.5	29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		108/1350	76301190	2,13002	2203	4299	6502	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76301190G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.322G>A	13.37:g.76301190G>A	ENSP00000342112:p.Val108Ile					LMO7_uc010thv.2_Missense_Mutation_p.V108I|LMO7_uc001vjt.1_Missense_Mutation_p.V56I	p.V56I	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	2	501	+		Breast(118;0.0992)	108			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.166G>A	CCDS9454.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.765	0.142174	0.09083	0.0	2.33E-4	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.23	-7.99	0.01131	.	1.050650	0.07501	N	0.907249	T	0.25082	0.0609	N	0.01122	-1.005	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.003	T	0.47509	-0.9112	10	0.11182	T	0.66	.	18.9369	0.92589	0.879:0.0:0.121:0.0	.	108;56	Q8WWI1-3;F8J2B5	.;.	I	108;108;108;56	ENSP00000342112:V108I;ENSP00000349571:V108I;ENSP00000366757:V108I;ENSP00000366719:V56I	ENSP00000342112:V108I	V	+	1	0	LMO7	75199191	0.001000	0.12720	0.002000	0.10522	0.758000	0.43043	-0.174000	0.09839	-1.935000	0.01049	-1.553000	0.00894	GTC		0.303	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358	
C14orf39	317761	broad.mit.edu	37	14	60938273	60938273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr14:60938273G>A	ENST00000321731.3	-	6	667	c.508C>T	c.(508-510)Cga>Tga	p.R170*		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	170					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTAATACCTCGAAATTTCATA	0.249																																						uc001xez.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(508-510)Cga>Tga		Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.							36.0	38.0	37.0					14																	60938273		2201	4276	6477	SO:0001587	stop_gained	317761							g.chr14:60938273G>A	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.508C>T	14.37:g.60938273G>A	ENSP00000324920:p.Arg170*					C14orf39_uc010apo.3_Intron	p.R170*	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	5	618	-			170					Q08AQ4	Nonsense_Mutation	SNP	ENST00000321731.3	37	c.508C>T	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811165	0.70797	.	.	ENSG00000179008	ENST00000321731	.	.	.	5.37	-0.057	0.13803	.	0.269718	0.26086	N	0.026436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7089	0.12863	0.4444:0.0:0.4097:0.1459	.	.	.	.	X	170	.	ENSP00000324920:R170X	R	-	1	2	C14orf39	60008026	0.931000	0.31567	0.999000	0.59377	0.802000	0.45316	-0.136000	0.10405	0.232000	0.21100	0.655000	0.94253	CGA		0.249	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
RYR3	6263	broad.mit.edu	37	15	33855071	33855071	+	Nonsense_Mutation	SNP	C	C	T	rs370675640		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:33855071C>T	ENST00000389232.4	+	11	1076	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R336*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	336					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGTCACAAGCGAGACATAGA	0.398																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1006-1008)Cga>Tga		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.		C	stop/ARG	1,3741		0,1,1870	80.0	78.0	79.0		1006	2.2	1.0	15		79	0,8234		0,0,4117	no	stop-gained	RYR3	NM_001036.3		0,1,5987	TT,TC,CC		0.0,0.0267,0.0084		336/4871	33855071	1,11975	1871	4117	5988	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33855071C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1006C>T	15.37:g.33855071C>T	ENSP00000373884:p.Arg336*					RYR3_uc010bar.3_Nonsense_Mutation_p.R336*	p.R336*	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	10	1076	+		all_lung(180;7.18e-09)	336					O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.1006C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	38	6.735325	0.97801	2.67E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.27	2.21	0.28008	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6294	0.62186	0.5558:0.4442:0.0:0.0	.	.	.	.	X	336	.	ENSP00000354735:R336X	R	+	1	2	RYR3	31642363	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	0.884000	0.28214	0.298000	0.22638	0.655000	0.94253	CGA		0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
EXD1	161829	broad.mit.edu	37	15	41488149	41488149	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:41488149T>G	ENST00000314992.5	-	6	637	c.447A>C	c.(445-447)gaA>gaC	p.E149D	EXD1_ENST00000458580.2_Missense_Mutation_p.E207D	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	149							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTCTTGTCTTCTAGTATCA	0.378																																						uc010ucv.2																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(619-621)gaA>gaC		Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.							99.0	100.0	99.0					15																	41488149		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41488149T>G	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.447A>C	15.37:g.41488149T>G	ENSP00000321029:p.Glu149Asp					EXD1_uc001znk.3_Missense_Mutation_p.E149D	p.E207D	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			7	893	-			149					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.621A>C	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926924	0.73327	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.66815	-0.23;-0.23	5.65	3.38	0.38709	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	M	0.75085	2.285	0.37896	D	0.930864	D;D	0.76494	0.999;0.997	D;D	0.71184	0.972;0.953	T	0.79227	-0.1890	10	0.59425	D	0.04	-1.2861	8.0479	0.30559	0.0:0.1598:0.0:0.8402	.	207;149	B7Z839;Q8NHP7	.;EXD1_HUMAN	D	149;207	ENSP00000321029:E149D;ENSP00000415056:E207D	ENSP00000321029:E149D	E	-	3	2	EXD1	39275441	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.070000	0.30653	0.985000	0.38656	0.379000	0.24179	GAA		0.378	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	
CLCN7	1186	broad.mit.edu	37	16	1507256	1507256	+	Splice_Site	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:1507256T>C	ENST00000382745.4	-	9	1426	c.821A>G	c.(820-822)aAg>aGg	p.K274R	CLCN7_ENST00000262318.8_Splice_Site_p.K250R|CLCN7_ENST00000448525.1_Splice_Site_p.K250R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	274					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592																																						uc002clv.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.e9+1		Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.							111.0	99.0	103.0					16																	1507256		2198	4300	6498	SO:0001630	splice_region_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507256T>C	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.822+1A>G	16.37:g.1507256T>C						CLCN7_uc002clw.2_Splice_Site_p.K250_splice	p.K274_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN			9	932	-		Hepatocellular(780;0.0893)	274					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.822_splice	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	T	7.723	0.697624	0.15106	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93659	-3.26;-3.26	5.39	4.29	0.51040	Chloride channel, core (2);	0.044123	0.85682	D	0.000000	T	0.81527	0.4841	N	0.04508	-0.205	0.80722	D	1	B;B	0.24426	0.005;0.103	B;B	0.25614	0.021;0.062	T	0.73332	-0.4016	10	0.07175	T	0.84	-48.0749	9.9049	0.41370	0.0:0.0814:0.0:0.9186	.	250;274	E9PDB9;P51798	.;CLCN7_HUMAN	R	250;227;274;216	ENSP00000410907:K250R;ENSP00000372193:K274R	ENSP00000262318:K227R	K	-	2	0	CLCN7	1447257	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	4.807000	0.62576	0.886000	0.36113	0.459000	0.35465	AAG		0.592	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	Missense_Mutation
MKL2	57496	broad.mit.edu	37	16	14234551	14234551	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:14234551C>G	ENST00000574045.1	+	3	243	c.88C>G	c.(88-90)Cat>Gat	p.H30D	MKL2_ENST00000318282.5_Missense_Mutation_p.H30D|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000571589.1_Missense_Mutation_p.H30D			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGTGGCTCATGAATTCCA	0.488																																						uc010uza.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(88-90)Cat>Gat		Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.							141.0	119.0	126.0					16																	14234551		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14234551C>G	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000574045.1:c.88C>G	16.37:g.14234551C>G	ENSP00000459205:p.His30Asp					MKL2_uc002dcg.3_Missense_Mutation_p.H30D	p.H30D	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			2	243	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000574045.1	37	c.88C>G	CCDS32391.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350460	0.61183	.	.	ENSG00000186260	ENST00000318282	.	.	.	5.15	4.2	0.49525	.	.	.	.	.	T	0.41926	0.1180	N	0.19112	0.55	0.80722	D	1	P;P	0.47677	0.743;0.899	B;P	0.46825	0.328;0.528	T	0.15925	-1.0420	8	0.23891	T	0.37	.	12.4783	0.55827	0.0:0.9182:0.0:0.0818	.	30;30	B4DGT8;Q9ULH7-4	.;.	D	30	.	ENSP00000339086:H30D	H	+	1	0	MKL2	14142052	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	3.589000	0.53972	1.167000	0.42706	0.650000	0.86243	CAT		0.488	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	NM_014048	
SETD1A	9739	broad.mit.edu	37	16	30977133	30977133	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:30977133C>G	ENST00000262519.8	+	8	2617	c.1931C>G	c.(1930-1932)cCt>cGt	p.P644R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	644	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCGCCGCCCCCTGAGTACCCC	0.652																																						uc002ead.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(1930-1932)cCt>cGt		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							37.0	35.0	36.0					16																	30977133		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977133C>G	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1931C>G	16.37:g.30977133C>G	ENSP00000262519:p.Pro644Arg						p.P644R	NM_014712	NP_055527	O15047	SET1A_HUMAN			7	2617	+			644			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1931C>G	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409911	0.25465	.	.	ENSG00000099381	ENST00000262519	D	0.95307	-3.67	4.82	3.86	0.44501	.	0.207947	0.41194	D	0.000937	D	0.91402	0.7287	L	0.43923	1.385	0.42281	D	0.992095	B	0.13145	0.007	B	0.09377	0.004	D	0.88848	0.3317	10	0.87932	D	0	.	14.1946	0.65662	0.0:0.849:0.151:0.0	.	644	O15047	SET1A_HUMAN	R	644	ENSP00000262519:P644R	ENSP00000262519:P644R	P	+	2	0	SETD1A	30884634	1.000000	0.71417	0.030000	0.17652	0.627000	0.37826	5.083000	0.64456	1.218000	0.43458	0.655000	0.94253	CCT		0.652	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
NF1	4763	broad.mit.edu	37	17	29496924	29496927	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:29496924_29496927delTGTT	ENST00000358273.4	+	5	878_881	c.495_498delTGTT	c.(493-498)actgttfs	p.TV165fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.TV165fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TV165fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	165					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.C167fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGAATTAACTGTTTGTTCAGAAG	0.328			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.C167fs*10(1)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000948	NF1	D		c.(493-498)actgttfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29496924_29496927delTGTT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.495_498delTGTT	17.37:g.29496928_29496931delTGTT	ENSP00000351015:p.Thr165fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T165fs|NF1_uc010csn.2_Intron	p.T165fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	878_881	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	165					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.495_498delTGTT	CCDS42292.1																																																																																				0.328	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
KRT36	8689	broad.mit.edu	37	17	39644595	39644595	+	Missense_Mutation	SNP	C	C	T	rs376301027		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:39644595C>T	ENST00000328119.6	-	3	598	c.599G>A	c.(598-600)cGt>cAt	p.R200H	KRT36_ENST00000393986.2_Missense_Mutation_p.R150H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	200	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGATCCTACGCAGGCCGTT	0.577																																						uc002hwt.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(598-600)cGt>cAt		Homo sapiens keratin 36 (KRT36), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	85.0	88.0		599	4.7	1.0	17		88	0,8600		0,0,4300	no	missense	KRT36	NM_003771.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	200/468	39644595	1,13005	2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39644595C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.599G>A	17.37:g.39644595C>T	ENSP00000329165:p.Arg200His						p.R200H	NM_003771	NP_003762	O76013	KRT36_HUMAN			2	599	-		Breast(137;0.000286)	200			Coil 1B.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.599G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173964	0.78452	2.27E-4	0.0	ENSG00000126337	ENST00000393986;ENST00000328119	T;T	0.43294	0.95;0.95	5.69	4.71	0.59529	Filament (1);	0.000000	0.51477	D	0.000087	T	0.49304	0.1549	L	0.54965	1.715	0.38197	D	0.940074	P	0.45715	0.865	P	0.49561	0.615	T	0.55768	-0.8089	10	0.49607	T	0.09	.	14.9456	0.71029	0.0:0.9304:0.0:0.0696	.	200	O76013	KRT36_HUMAN	H	150;200	ENSP00000377555:R150H;ENSP00000329165:R200H	ENSP00000329165:R200H	R	-	2	0	KRT36	36898121	0.031000	0.19500	0.997000	0.53966	0.936000	0.57629	1.694000	0.37752	1.389000	0.46526	0.563000	0.77884	CGT		0.577	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771	
BCAS3	54828	broad.mit.edu	37	17	58756885	58756885	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:58756885C>T	ENST00000390652.5	+	2	98	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	BCAS3_ENST00000588462.1_Missense_Mutation_p.R23C|BCAS3_ENST00000589222.1_Missense_Mutation_p.R23C|BCAS3_ENST00000407086.3_Missense_Mutation_p.R23C|BCAS3_ENST00000408905.3_Missense_Mutation_p.R23C	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTGTGGTTCGCCCCCAGGC	0.403																																						uc002iyv.4																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(67-69)Cgc>Tgc		Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.							170.0	170.0	170.0					17																	58756885		1889	4119	6008	SO:0001583	missense	54828					nucleus		g.chr17:58756885C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.67C>T	17.37:g.58756885C>T	ENSP00000375067:p.Arg23Cys					BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.4_Missense_Mutation_p.R23C|BCAS3_uc002iyw.4_Missense_Mutation_p.R19C	p.R23C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		1	176	+			23						Missense_Mutation	SNP	ENST00000390652.5	37	c.67C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710193	0.68730	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.32988	1.44;1.44;1.43	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.76575	0.876;0.988;0.973;0.983	T	0.52704	-0.8540	10	0.87932	D	0	.	14.7313	0.69383	0.0:1.0:0.0:0.0	.	23;23;23;23	B4E3M9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;BCAS3_HUMAN;.	C	23	ENSP00000375067:R23C;ENSP00000385323:R23C;ENSP00000386173:R23C	ENSP00000353336:R23C	R	+	1	0	BCAS3	56111667	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.646000	0.67916	2.057000	0.61298	0.462000	0.41574	CGC		0.403	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	
ABCA10	10349	broad.mit.edu	37	17	67212489	67212489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:67212489C>A	ENST00000269081.4	-	8	1450	c.541G>T	c.(541-543)Gga>Tga	p.G181*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G181*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G181*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	181					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATGTCAATCCCCAGGAGAGC	0.368																																						uc010dfa.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(541-543)Gga>Tga		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.							137.0	141.0	140.0					17																	67212489		2203	4300	6503	SO:0001587	stop_gained	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67212489C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.541G>T	17.37:g.67212489C>A	ENSP00000269081:p.Gly181*					ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Nonsense_Mutation_p.G73*	p.G181*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			7	1420	-	Breast(10;6.95e-12)		181					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	c.541G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	43	9.859351	0.99281	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.2	3.2	0.36748	.	0.000000	0.33854	U	0.004486	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.1341	0.20221	0.0:0.8577:0.0:0.1423	.	.	.	.	X	181	.	ENSP00000269081:G181X	G	-	1	0	ABCA10	64724084	0.933000	0.31639	0.959000	0.39883	0.807000	0.45602	1.400000	0.34577	1.602000	0.50124	0.609000	0.83330	GGA		0.368	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
KCNJ16	3773	broad.mit.edu	37	17	68128849	68128849	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:68128849G>A	ENST00000589377.1	+	2	784	c.621G>A	c.(619-621)cgG>cgA	p.R207R	KCNJ16_ENST00000392671.1_Silent_p.R207R|KCNJ16_ENST00000283936.1_Silent_p.R207R|KCNJ16_ENST00000392670.1_Silent_p.R207R|KCNJ16_ENST00000586462.1_Silent_p.R246R|KCNJ16_ENST00000585558.1_Silent_p.R242R	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	207					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GTGATTTTCGGCCAAACCACG	0.468																																						uc002jiq.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(715-717)cgG>cgA		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.							74.0	65.0	68.0					17																	68128849		2203	4300	6503	SO:0001819	synonymous_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128849G>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.621G>A	17.37:g.68128849G>A						KCNJ16_uc002jin.3_Silent_p.R207R|KCNJ16_uc002jio.3_Silent_p.R207R|KCNJ16_uc002jip.3_Silent_p.R207R|KCNJ16_uc021uch.1_Silent_p.R207R	p.R239R	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN			2	857	+	Breast(10;2.96e-09)		207						Silent	SNP	ENST00000589377.1	37	c.717G>A	CCDS11687.1																																																																																				0.468	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658	
ZNF556	80032	broad.mit.edu	37	19	2877814	2877814	+	Silent	SNP	G	G	A	rs377206346		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:2877814G>A	ENST00000307635.2	+	4	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_ENST00000586426.1_Silent_p.P285P	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGACCGTATGAGTGCA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21210	0.001		0.0	False		,,,				2504	0.0					uc002lwp.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(856-858)ccG>ccA		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.		G		0,4406		0,0,2203	61.0	55.0	57.0		858	-4.3	0.0	19		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF556	NM_024967.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		286/457	2877814	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877814G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.858G>A	19.37:g.2877814G>A						ZNF556_uc002lwq.3_Silent_p.P285P	p.P286P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	945	+			286					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.858G>A	CCDS12097.1																																																																																				0.517	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
CCDC105	126402	broad.mit.edu	37	19	15132710	15132710	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15132710G>A	ENST00000292574.3	+	6	1312	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	410						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCCAACTCCCGGAGGCTGCGC	0.632																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1228-1230)ccG>ccA		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							53.0	59.0	57.0					19																	15132710		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132710G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1230G>A	19.37:g.15132710G>A							p.P410P	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			5	1329	+			410					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1230G>A	CCDS12322.1																																																																																				0.632	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	
CYP4F22	126410	broad.mit.edu	37	19	15648391	15648391	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15648391G>A	ENST00000269703.3	+	6	666	c.467G>A	c.(466-468)cGt>cAt	p.R156H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R156H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	156						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R156L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCCGGCACCGTCGCCTGCTG	0.542																																						uc002nbh.4																			1	Substitution - Missense(1)	p.R156L(2)	lung(1)	endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(466-468)cGt>cAt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.							70.0	70.0	70.0					19																	15648391		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648391G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.467G>A	19.37:g.15648391G>A	ENSP00000269703:p.Arg156His						p.R156H	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			5	634	+			156					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.467G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877794	0.91664	.	.	ENSG00000171954	ENST00000269703	D	0.85629	-2.01	5.27	5.27	0.74061	.	0.059415	0.64402	N	0.000003	D	0.94794	0.8319	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.96288	0.9211	10	0.87932	D	0	.	16.4017	0.83642	0.0:0.0:1.0:0.0	.	156	Q6NT55	CP4FN_HUMAN	H	156	ENSP00000269703:R156H	ENSP00000269703:R156H	R	+	2	0	CYP4F22	15509391	1.000000	0.71417	0.978000	0.43139	0.906000	0.53458	9.294000	0.96088	2.475000	0.83589	0.313000	0.20887	CGT		0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
FFAR2	2867	broad.mit.edu	37	19	35940986	35940986	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:35940986C>T	ENST00000599180.2	+	2	450	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L124L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	124					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCGCCGGCCTCTGTATGGAGT	0.577																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(370-372)Ctg>Ttg		Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.							88.0	78.0	82.0					19																	35940986		2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940986C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.370C>T	19.37:g.35940986C>T						FFAR2_uc010eea.3_Silent_p.L124L	p.L124L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	450	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		124					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.370C>T	CCDS12461.1																																																																																				0.577	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
MAP4K1	11184	broad.mit.edu	37	19	39098515	39098515	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:39098515G>A	ENST00000591517.1	-	16	1174	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Silent_p.D44D|MAP4K1_ENST00000396857.2_Silent_p.D382D|MAP4K1_ENST00000589130.1_Silent_p.D378D	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	382					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCCACGTCGTCATAGTCAT	0.597																																						uc002oix.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1144-1146)gaC>gaT		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.							36.0	39.0	38.0					19																	39098515		2103	4213	6316	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39098515G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1146C>T	19.37:g.39098515G>A						MAP4K1_uc002oiy.1_Silent_p.D382D|MAP4K1_uc010xug.2_Silent_p.D44D	p.D382D	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		15	1254	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		382						Silent	SNP	ENST00000591517.1	37	c.1146C>T	CCDS59385.1																																																																																				0.597	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
DMPK	1760	broad.mit.edu	37	19	46275974	46275974	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:46275974C>T	ENST00000291270.4	-	10	1394	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	AC074212.6_ENST00000590076.1_RNA|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000447742.2_Silent_p.L418L|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000343373.4_Silent_p.L433L|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000458663.2_Silent_p.L418L|DMPK_ENST00000595361.1_5'Flank|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000600757.1_Silent_p.L428L|DMPK_ENST00000354227.5_Silent_p.L418L	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	423			L -> V (in dbSNP:rs527221). {ECO:0000269|PubMed:1310900, ECO:0000269|PubMed:7905855, ECO:0000269|PubMed:8469976, ECO:0000269|PubMed:8499920}.		cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTCGGCCTCCAGTTCCATGG	0.627																																					Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdi.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1345-1347)ctG>ctA		Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.							43.0	44.0	44.0					19																	46275974		2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46275974C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1269G>A	19.37:g.46275974C>T						DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Silent_p.L334L|DMPK_uc002pdd.1_Silent_p.L433L|DMPK_uc002pde.1_Silent_p.L428L|DMPK_uc002pdg.1_Silent_p.L418L|DMPK_uc002pdf.1_Silent_p.L423L|DMPK_uc002pdh.1_Silent_p.L418L|DMPK_uc010xxt.1_Silent_p.L418L	p.L449L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	10	1533	-		Ovarian(192;0.0308)|all_neural(266;0.112)	433					E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.1347G>A	CCDS12674.1																																																																																				0.627	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409	
ZNF831	128611	broad.mit.edu	37	20	57766702	57766702	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr20:57766702G>A	ENST00000371030.2	+	1	628	c.628G>A	c.(628-630)Ggg>Agg	p.G210R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	210							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGAGGGCGCCGGGGGCGGCCT	0.677																																						uc002yan.3																			0		p.A209V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(628-630)Ggg>Agg		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							29.0	36.0	33.0					20																	57766702		1887	4098	5985	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766702G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.628G>A	20.37:g.57766702G>A	ENSP00000360069:p.Gly210Arg						p.G210R	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			0	628	+	all_lung(29;0.0085)		210					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.628G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458170	0.26161	.	.	ENSG00000124203	ENST00000371030	T	0.05199	3.48	4.68	2.71	0.32032	.	.	.	.	.	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	P	0.45715	0.865	B	0.32762	0.152	T	0.38090	-0.9677	9	0.66056	D	0.02	-4.5597	9.256	0.37584	0.1733:0.0:0.8267:0.0	.	210	Q5JPB2	ZN831_HUMAN	R	210	ENSP00000360069:G210R	ENSP00000360069:G210R	G	+	1	0	ZNF831	57200097	0.941000	0.31946	0.006000	0.13384	0.064000	0.16182	1.574000	0.36482	0.660000	0.30964	0.561000	0.74099	GGG		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
IFNGR2	3460	broad.mit.edu	37	21	34799266	34799266	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr21:34799266T>C	ENST00000290219.6	+	4	1136	c.488T>C	c.(487-489)tTt>tCt	p.F163S	IFNGR2_ENST00000381995.1_Missense_Mutation_p.F182S|IFNGR2_ENST00000405436.1_Missense_Mutation_p.F84S	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	163	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCCTCTCCCTTTGACATCGCT	0.443																																						uc002yrp.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(487-489)tTt>tCt		Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	Interferon gamma-1b(DB00033)						248.0	246.0	247.0					21																	34799266		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799266T>C		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.488T>C	21.37:g.34799266T>C	ENSP00000290219:p.Phe163Ser						p.F163S	NM_005534	NP_005525	P38484	INGR2_HUMAN			3	1136	+			163			Fibronectin type-III 2.		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.488T>C	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281323	0.59758	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.42513	0.97;0.97;0.97	5.38	5.38	0.77491	Fibronectin, type III (3);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.134420	0.06537	N	0.742616	T	0.65565	0.2703	M	0.72894	2.215	0.41430	D	0.987857	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.45483	-0.9258	10	0.33940	T	0.23	-6.2656	12.0685	0.53603	0.0:0.0:0.0:1.0	.	182;163	E7EUY1;P38484	.;INGR2_HUMAN	S	163;182;84	ENSP00000290219:F163S;ENSP00000371425:F182S;ENSP00000385044:F84S	ENSP00000290219:F163S	F	+	2	0	IFNGR2	33721136	0.994000	0.37717	0.979000	0.43373	0.249000	0.25844	3.537000	0.53590	2.156000	0.67533	0.460000	0.39030	TTT		0.443	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1		
BPIFC	254240	broad.mit.edu	37	22	32828360	32828360	+	Splice_Site	SNP	G	G	A	rs200868839		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:32828360G>A	ENST00000397452.1	-	11	1259	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	BPIFC_ENST00000534972.1_Splice_Site_p.F107F|BPIFC_ENST00000300399.3_Splice_Site_p.F383F|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	383						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CCAGACTTACGAAGTCCATGG	0.517																																						uc003amn.2																			0											c.e10+1		Homo sapiens BPI fold containing family C (BPIFC), mRNA.							155.0	139.0	145.0					22																	32828360		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32828360G>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1149+1C>T	22.37:g.32828360G>A						BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Splice_Site_p.F107_splice	p.F383_splice	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			10	1149	-			383					A2RRF1	Silent	SNP	ENST00000397452.1	37	c.1149_splice	CCDS13906.1																																																																																				0.517	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Silent
MYH9	4627	broad.mit.edu	37	22	36696181	36696181	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:36696181G>A	ENST00000216181.5	-	23	3198	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	990					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCTTGGCCAGCTTGCAGTTC	0.662			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.3				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2968-2970)Ctg>Ttg		Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.							82.0	70.0	74.0					22																	36696181		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696181G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2968C>T	22.37:g.36696181G>A						MYH9_uc003aph.1_Silent_p.L854L	p.L990L	NM_002473	NP_002464	P35579	MYH9_HUMAN			22	3199	-			990					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.2968C>T	CCDS13927.1																																																																																				0.662	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
TMEM184B	25829	broad.mit.edu	37	22	38617546	38617546	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:38617546C>T	ENST00000361906.3	-	9	1362	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	TMEM184B_ENST00000361684.4_Missense_Mutation_p.R385H|TMEM184B_ENST00000504337.1_5'UTR	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	385						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GCTGTGGGAGCGGGAGAGGCC	0.652																																						uc003avf.1																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1153-1155)cGc>cAc		Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.							72.0	60.0	64.0					22																	38617546		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38617546C>T	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.1154G>A	22.37:g.38617546C>T	ENSP00000355210:p.Arg385His					TMEM184B_uc003avh.2_Missense_Mutation_p.R319H|TMEM184B_uc003avg.2_Missense_Mutation_p.R385H|TMEM184B_uc021wpo.1_Non-coding_Transcript	p.R385H	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN			8	1378	-	Melanoma(58;0.045)		385					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.1154G>A	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902162	0.72754	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.49720	0.77;0.77	5.07	5.07	0.68467	.	0.057295	0.64402	D	0.000001	T	0.43122	0.1233	L	0.34521	1.04	0.80722	D	1	D	0.61080	0.989	B	0.44163	0.443	T	0.41556	-0.9502	10	0.45353	T	0.12	-34.4024	18.4374	0.90652	0.0:1.0:0.0:0.0	.	385	Q9Y519	T184B_HUMAN	H	385	ENSP00000355210:R385H;ENSP00000354441:R385H	ENSP00000354441:R385H	R	-	2	0	TMEM184B	36947492	1.000000	0.71417	0.898000	0.35279	0.809000	0.45718	7.733000	0.84916	2.363000	0.80096	0.561000	0.74099	CGC		0.652	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264	
MEI1	150365	broad.mit.edu	37	22	42191460	42191460	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:42191460G>C	ENST00000401548.3	+	29	3620	c.3580G>C	c.(3580-3582)Ggt>Cgt	p.G1194R	MEI1_ENST00000300398.4_Intron|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.G527R	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAAGAGGTGGGTGATGTTCT	0.557																																						uc003baz.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(3580-3582)Ggt>Cgt		Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.							159.0	161.0	160.0					22																	42191460		2052	4210	6262	SO:0001583	missense	150365						binding	g.chr22:42191460G>C	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3580G>C	22.37:g.42191460G>C	ENSP00000384115:p.Gly1194Arg					bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.G580R|MEI1_uc003bbc.1_Missense_Mutation_p.G562R|MEI1_uc010gym.1_Missense_Mutation_p.G527R|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc003bbg.2_Intron	p.G1194R	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			28	3605	+			1194						Missense_Mutation	SNP	ENST00000401548.3	37	c.3580G>C	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	g	8.873	0.949699	0.18431	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000419798	T;T	0.69435	-0.4;-0.4	5.01	3.92	0.45320	.	0.747404	0.13042	N	0.418438	T	0.55609	0.1931	L	0.38531	1.155	0.49687	D	0.999817	B;B;B	0.15141	0.012;0.012;0.005	B;B;B	0.17433	0.011;0.018;0.016	T	0.48514	-0.9029	10	0.23891	T	0.37	-22.6136	11.931	0.52847	0.0:0.1756:0.8243:0.0	.	527;562;1194	Q5TIA1-3;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	R	1194;527;304	ENSP00000384115:G1194R;ENSP00000382978:G527R	ENSP00000382978:G527R	G	+	1	0	MEI1	40521406	0.911000	0.30947	0.937000	0.37676	0.024000	0.10985	1.522000	0.35921	2.322000	0.78497	0.462000	0.41574	GGT		0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	
PANX2	56666	broad.mit.edu	37	22	50617532	50617532	+	Silent	SNP	C	C	T	rs145485598		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:50617532C>T	ENST00000395842.2	+	3	1860	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	PANX2_ENST00000159647.5_Silent_p.N620N	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	620					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGAGCCGAAACGCCACACACC	0.716																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1858-1860)aaC>aaT		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							40.0	38.0	39.0					22																	50617532		2196	4295	6491	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617532C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1860C>T	22.37:g.50617532C>T						PANX2_uc003bjp.4_Silent_p.N486N|PANX2_uc003bjo.4_Silent_p.N620N	p.N620N	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	1860	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	620					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.1860C>T	CCDS14085.2																																																																																				0.716	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
FBLN2	2199	broad.mit.edu	37	3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:13679189G>A	ENST00000295760.7	+	17	3394	c.3325G>A	c.(3325-3327)Gcg>Acg	p.A1109T	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1156T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622																																						uc011avc.2																			4	Substitution - Missense(4)	p.A1156T(2)|p.A575T(2)	large_intestine(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3466-3468)Gcg>Acg		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							43.0	48.0	46.0					3																	13679189		2154	4245	6399	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679189G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3325G>A	3.37:g.13679189G>A	ENSP00000295760:p.Ala1109Thr					FBLN2_uc011auz.2_Missense_Mutation_p.A1135T|FBLN2_uc011avb.2_Missense_Mutation_p.A1109T|FBLN2_uc011ava.2_Missense_Mutation_p.A1156T	p.A1156T	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3848	+			1109			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3466G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946543	0.34377	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79554	-1.28;-1.24;-1.19;-1.24	4.6	2.63	0.31362	.	0.194173	0.46442	D	0.000286	T	0.44871	0.1314	N	0.01729	-0.75	0.35567	D	0.805155	B;P;P	0.48998	0.313;0.918;0.72	B;B;B	0.34138	0.058;0.176;0.131	T	0.54221	-0.8326	10	0.14656	T	0.56	.	5.867	0.18781	0.1026:0.0:0.5213:0.376	.	1109;1156;1135	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	T	1135;1156;1109;1156	ENSP00000445705:A1135T;ENSP00000384169:A1156T;ENSP00000295760:A1109T;ENSP00000420042:A1156T	ENSP00000295760:A1109T	A	+	1	0	FBLN2	13654190	0.993000	0.37304	0.747000	0.31113	0.616000	0.37450	3.099000	0.50267	1.157000	0.42530	0.462000	0.41574	GCG		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
SCN10A	6336	broad.mit.edu	37	3	38833608	38833608	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:38833608G>A	ENST00000449082.2	-	2	321	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	108					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CACAGGGCCCGAGTGGCACTA	0.463																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(322-324)Cgg>Tgg		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						200.0	195.0	197.0					3																	38833608		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38833608G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.322C>T	3.37:g.38833608G>A	ENSP00000390600:p.Arg108Trp						p.R108W	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	322	-			108					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.322C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140343	0.37825	.	.	ENSG00000185313	ENST00000449082	D	0.96200	-3.94	4.2	3.31	0.37934	.	0.735079	0.13526	N	0.381307	D	0.91216	0.7232	L	0.41415	1.275	0.24889	N	0.992179	B	0.11235	0.004	B	0.08055	0.003	D	0.83766	0.0217	10	0.46703	T	0.11	.	6.8432	0.23975	0.0914:0.0:0.7351:0.1735	.	108	Q9Y5Y9	SCNAA_HUMAN	W	108	ENSP00000390600:R108W	ENSP00000390600:R108W	R	-	1	2	SCN10A	38808612	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.043000	0.13971	1.095000	0.41419	0.650000	0.86243	CGG		0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
CCDC71	64925	broad.mit.edu	37	3	49200468	49200468	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:49200468T>C	ENST00000321895.6	-	2	1280	c.1174A>G	c.(1174-1176)Agg>Ggg	p.R392G		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	392										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCTCAGCCCTTTTCCTCTTC	0.572																																						uc003cwg.4																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(1174-1176)Agg>Ggg		Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.							157.0	159.0	158.0					3																	49200468		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49200468T>C	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.1174A>G	3.37:g.49200468T>C	ENSP00000319006:p.Arg392Gly					CCDC71_uc021wxs.1_Missense_Mutation_p.R392G	p.R392G	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1312	-			392					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.1174A>G	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502529	0.64298	.	.	ENSG00000177352	ENST00000321895	T	0.35048	1.33	5.76	5.76	0.90799	.	0.183316	0.38058	N	0.001827	T	0.35451	0.0932	L	0.53249	1.67	0.27622	N	0.94831	P	0.41848	0.763	B	0.42422	0.387	T	0.45101	-0.9284	10	0.56958	D	0.05	-13.0661	7.882	0.29627	0.0:0.0708:0.1379:0.7913	.	392	Q8IV32	CCD71_HUMAN	G	392	ENSP00000319006:R392G	ENSP00000319006:R392G	R	-	1	2	CCDC71	49175472	0.619000	0.27059	1.000000	0.80357	0.991000	0.79684	3.307000	0.51888	2.185000	0.69588	0.460000	0.39030	AGG		0.572	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903	
GPR128	84873	broad.mit.edu	37	3	100365559	100365559	+	Silent	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:100365559T>C	ENST00000273352.3	+	10	1525	c.1257T>C	c.(1255-1257)gcT>gcC	p.A419A	GPR128_ENST00000475887.1_Silent_p.A124A|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	419	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTAATTTTGCTGTATTAATGG	0.413																																					Pancreas(87;185 1975 7223 18722)	uc003duc.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1255-1257)gcT>gcC		Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.							83.0	85.0	84.0					3																	100365559		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365559T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1257T>C	3.37:g.100365559T>C						GPR128_uc011bhc.2_Silent_p.A120A	p.A419A	NM_032787	NP_116176	Q96K78	GP128_HUMAN			9	1525	+			419			GPS.		Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1257T>C	CCDS2938.1																																																																																				0.413	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
PHLDB2	90102	broad.mit.edu	37	3	111603461	111603461	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:111603461G>C	ENST00000431670.2	+	2	948	c.537G>C	c.(535-537)atG>atC	p.M179I	PHLDB2_ENST00000477695.1_Missense_Mutation_p.M179I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M179I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M206I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M179I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M179I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M179I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	179						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCTGGCCATGTGGAATGGAA	0.537																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(535-537)atG>atC		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							59.0	59.0	59.0					3																	111603461		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603461G>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.537G>C	3.37:g.111603461G>C	ENSP00000405405:p.Met179Ile					PHLDB2_uc003dyc.3_Missense_Mutation_p.M206I|PHLDB2_uc003dyd.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyg.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyh.3_Missense_Mutation_p.M179I|PHLDB2_uc003dye.4_Missense_Mutation_p.M179I|PHLDB2_uc003dyf.4_Missense_Mutation_p.M179I	p.M179I	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN			1	948	+			179					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.537G>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169035	0.38315	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.43;1.38;1.39;1.43;1.38	5.61	4.68	0.58851	.	0.331919	0.39210	N	0.001426	T	0.29524	0.0736	L	0.38531	1.155	0.45704	D	0.998613	B;B;B;B;B	0.17667	0.0;0.023;0.018;0.0;0.001	B;B;B;B;B	0.16722	0.001;0.007;0.016;0.002;0.002	T	0.04708	-1.0932	10	0.42905	T	0.14	.	12.8855	0.58040	0.0:0.0:0.8375:0.1625	.	179;179;179;179;206	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	206;206;179;179;179;179;179;179;179	ENSP00000377500:M206I;ENSP00000405405:M179I;ENSP00000405292:M179I;ENSP00000418296:M179I;ENSP00000377502:M179I;ENSP00000418319:M179I	ENSP00000352764:M206I	M	+	3	0	PHLDB2	113086151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.219000	0.58561	2.813000	0.96785	0.655000	0.94253	ATG		0.537	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
CASR	846	broad.mit.edu	37	3	122003132	122003132	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:122003132C>T	ENST00000490131.1	+	7	2703	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Silent_p.I787I|CASR_ENST00000296154.5_Silent_p.I777I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	777					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTTCCTGATCGGCTACACCT	0.582																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2359-2361)atC>atT		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						43.0	40.0	41.0					3																	122003132		2202	4300	6502	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003132C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2331C>T	3.37:g.122003132C>T						CASR_uc003eev.4_Silent_p.I777I	p.I787I	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	2799	+			777					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2361C>T	CCDS3010.1																																																																																				0.582	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
LINC00969	440993	broad.mit.edu	37	3	195410640	195410640	+	lincRNA	SNP	T	T	C	rs6583273	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837									long intergenic non-protein coding RNA 969																		TTGATGAGTATGATCACTCCA	0.468																																						uc003fuw.3																			0											c.(535-537)taT>taC		Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																																						727956							g.chr3:195410640T>C	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.195410640T>C						SDHAP2_uc003fuv.3_Non-coding_Transcript	p.Y179Y							12	1731	+									Silent	SNP	ENST00000445430.1	37	c.537T>C																																																																																					0.468	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					uc003fuw.3																			0											c.(583-585)gTg>gAg		Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																																						727956							g.chr3:195410687T>A	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.195410687T>A						SDHAP2_uc003fuv.3_Non-coding_Transcript	p.V195E							12	1778	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.584T>A																																																																																					0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
UGT2B28	54490	broad.mit.edu	37	4	70146911	70146911	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:70146911G>T	ENST00000335568.5	+	1	695	c.693G>T	c.(691-693)aaG>aaT	p.K231N	UGT2B28_ENST00000511240.1_Missense_Mutation_p.K231N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	231					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATATGAAGAAGTGGGATCAGT	0.323																																						uc003hej.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(691-693)aaG>aaT		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	Flunitrazepam(DB01544)						49.0	57.0	54.0					4																	70146911		2020	4212	6232	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146911G>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.693G>T	4.37:g.70146911G>T	ENSP00000334276:p.Lys231Asn					UGT2B28_uc010ihr.3_Missense_Mutation_p.K231N	p.K231N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			0	695	+			231					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.693G>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.786	-0.760466	0.02996	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.61742	0.08;0.08	2.18	-4.36	0.03645	.	1.198360	0.06548	U	0.744543	T	0.36799	0.0980	N	0.26042	0.785	0.09310	N	0.999999	B;B	0.21606	0.058;0.005	B;B	0.25987	0.065;0.02	T	0.13442	-1.0509	10	0.29301	T	0.29	.	1.1553	0.01794	0.236:0.1258:0.1571:0.4812	.	231;231	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	N	231	ENSP00000334276:K231N;ENSP00000427399:K231N	ENSP00000334276:K231N	K	+	3	2	UGT2B28	70181500	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-4.590000	0.00211	-2.140000	0.00806	0.184000	0.17185	AAG		0.323	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
INTS12	57117	broad.mit.edu	37	4	106604288	106604288	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:106604288C>T	ENST00000451321.2	-	7	1470	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	INTS12_ENST00000394735.1_Missense_Mutation_p.V331M|INTS12_ENST00000340139.5_Missense_Mutation_p.V331M	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	331	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTCAAACCCACAGGTTTCTGG	0.448																																						uc003hxw.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(991-993)Gtg>Atg		Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.							197.0	185.0	189.0					4																	106604288		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604288C>T		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.991G>A	4.37:g.106604288C>T	ENSP00000415433:p.Val331Met					INTS12_uc010ilr.3_Missense_Mutation_p.V331M	p.V331M	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	7	1249	-			331			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.991G>A	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686563	0.47991	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.54675	0.56;0.56;0.56	5.17	4.33	0.51752	.	0.131208	0.51477	D	0.000100	T	0.34077	0.0885	N	0.24115	0.695	0.42996	D	0.994509	B	0.34372	0.451	B	0.23716	0.048	T	0.21861	-1.0233	10	0.48119	T	0.1	-10.4415	10.9673	0.47421	0.0:0.8491:0.0:0.1509	.	331	Q96CB8	INT12_HUMAN	M	331	ENSP00000378221:V331M;ENSP00000340737:V331M;ENSP00000415433:V331M	ENSP00000340737:V331M	V	-	1	0	INTS12	106823737	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.227000	0.58612	1.176000	0.42840	0.591000	0.81541	GTG		0.448	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395	
CDH18	1016	broad.mit.edu	37	5	19544080	19544080	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:19544080A>T	ENST00000507958.1	-	11	2278	c.1288T>A	c.(1288-1290)Ttt>Att	p.F430I	CDH18_ENST00000382275.1_Missense_Mutation_p.F430I|CDH18_ENST00000274170.4_Missense_Mutation_p.F430I|CDH18_ENST00000511273.1_Missense_Mutation_p.F430I|CDH18_ENST00000502796.1_Missense_Mutation_p.F430I|CDH18_ENST00000506372.1_Missense_Mutation_p.F430I			Q13634	CAD18_HUMAN	cadherin 18, type 2	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTTGAAAAATCTGTCGTCT	0.353																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1288-1290)Ttt>Att		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							112.0	106.0	108.0					5																	19544080		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544080A>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1288T>A	5.37:g.19544080A>T	ENSP00000425093:p.Phe430Ile					CDH18_uc011cnm.2_Missense_Mutation_p.F430I|CDH18_uc003jgc.3_Missense_Mutation_p.F430I|CDH18_uc021xwu.1_Missense_Mutation_p.F430I	p.F430I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			8	1822	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		430			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1288T>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	5.692	0.312215	0.10789	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.458065	0.23323	N	0.049422	T	0.31482	0.0798	N	0.20685	0.6	0.29579	N	0.849329	B;B	0.30361	0.022;0.277	B;B	0.31442	0.102;0.13	T	0.23726	-1.0180	9	.	.	.	.	10.2325	0.43264	0.8336:0.1664:0.0:0.0	.	430;430	B4DHG6;Q13634	.;CAD18_HUMAN	I	430;430;430;430;430;430;376;430	ENSP00000371710:F430I;ENSP00000425093:F430I;ENSP00000274170:F430I;ENSP00000424931:F430I;ENSP00000422138:F430I;ENSP00000427383:F376I;ENSP00000425854:F430I	.	F	-	1	0	CDH18	19579837	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	3.013000	0.49582	2.007000	0.58848	0.383000	0.25322	TTT		0.353	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
MAP1B	4131	broad.mit.edu	37	5	71490832	71490832	+	Silent	SNP	A	A	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:71490832A>G	ENST00000296755.7	+	5	1948	c.1650A>G	c.(1648-1650)aaA>aaG	p.K550K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	550					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCGCAAAACCACTTCCTA	0.493																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1648-1650)aaA>aaG		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							40.0	43.0	42.0					5																	71490832		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490832A>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1650A>G	5.37:g.71490832A>G						MAP1B_uc010iyw.1_Silent_p.K567K|MAP1B_uc010iyx.1_Silent_p.K424K|MAP1B_uc010iyy.1_Silent_p.K424K	p.K550K	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	1891	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	550					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.1650A>G	CCDS4012.1																																																																																				0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
HIST1H2BA	255626	broad.mit.edu	37	6	25727356	25727356	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:25727356C>T	ENST00000274764.2	+	1	220	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	74					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						TATCTTTGAGCGTATAGCGAG	0.483																																						uc003nfd.3																			0				breast(1)|kidney(1)	2						c.(220-222)Cgt>Tgt		Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.							391.0	294.0	327.0					6																	25727356		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727356C>T	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.220C>T	6.37:g.25727356C>T	ENSP00000274764:p.Arg74Cys					HIST1H2AA_uc003nfc.3_5'Flank	p.R74C	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN			0	220	+			74					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.220C>T	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295265	0.40594	.	.	ENSG00000146047	ENST00000274764	T	0.70282	-0.47	3.16	2.26	0.28386	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000001	D	0.83161	0.5194	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85168	0.0996	10	0.51188	T	0.08	.	10.9868	0.47526	0.189:0.811:0.0:0.0	.	74	Q96A08	H2B1A_HUMAN	C	74	ENSP00000274764:R74C	ENSP00000274764:R74C	R	+	1	0	HIST1H2BA	25835335	1.000000	0.71417	0.404000	0.26397	0.027000	0.11550	3.820000	0.55693	0.872000	0.35775	0.644000	0.83932	CGT		0.483	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610	
HIST1H2BE	8344	broad.mit.edu	37	6	26184091	26184093	+	In_Frame_Del	DEL	AGA	AGA	-	rs549755584	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:26184091_26184093delAGA	ENST00000356530.3	+	1	134_136	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	25					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ACCAAGGCGCAGAAGAAGGACGG	0.576														3	0.000599042	0.0	0.0	5008	,	,		19625	0.001		0.0	False		,,,				2504	0.002					uc003ngt.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(67-72)cagaag>cag		Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.																																				SO:0001651	inframe_deletion	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184091_26184093delAGA	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.68_70delAGA	6.37:g.26184094_26184096delAGA	ENSP00000348924:p.Lys25del						p.K25del	NM_003523	NP_003517	P62807	H2B1C_HUMAN			0	68_70	+			25					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000356530.3	37	c.68_70delAGA	CCDS4588.1																																																																																				0.576	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523	
TRIM10	10107	broad.mit.edu	37	6	30121907	30121907	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:30121907G>A	ENST00000449742.2	-	7	1360	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	429	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CTCACCTGCCGGGGCTGCTCC	0.642																																						uc003npo.3																			0				ovary(1)	1						c.(1285-1287)Cgg>Tgg		Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							43.0	40.0	41.0					6																	30121907		1509	2708	4217	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30121907G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1285C>T	6.37:g.30121907G>A	ENSP00000397073:p.Arg429Trp					TRIM10_uc003npn.2_Intron	p.R429W	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			6	1361	-			429			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1285C>T	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963629	0.34659	.	.	ENSG00000204613	ENST00000449742;ENST00000376706	T	0.71341	-0.56	6.01	1.72	0.24424	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.261850	0.05437	N	0.547066	T	0.74473	0.3721	M	0.88842	2.985	0.09310	N	0.999998	D	0.71674	0.998	P	0.54210	0.745	T	0.60301	-0.7290	10	0.62326	D	0.03	.	11.2666	0.49114	0.0678:0.0:0.6132:0.319	.	429	Q9UDY6	TRI10_HUMAN	W	429	ENSP00000397073:R429W	ENSP00000365896:R429W	R	-	1	2	TRIM10	30229886	0.001000	0.12720	0.323000	0.25347	0.065000	0.16274	-0.298000	0.08265	0.125000	0.18397	-0.726000	0.03593	CGG		0.642	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
MICB	4277	broad.mit.edu	37	6	31474137	31474137	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:31474137C>T	ENST00000252229.6	+	3	622	c.543C>T	c.(541-543)cgC>cgT	p.R181R	MICB_ENST00000399150.3_Silent_p.R138R|MICB_ENST00000538442.1_Silent_p.R149R	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CACACTATCGCGCTATGCAGG	0.532																																						uc003ntn.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(541-543)cgC>cgT		Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.							76.0	76.0	76.0					6																	31474137		1953	4149	6102	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474137C>T		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.543C>T	6.37:g.31474137C>T						MICB_uc011dnm.2_Silent_p.R149R|MICB_uc021yuq.1_Silent_p.R149R|MICB_uc003nto.4_Silent_p.R138R	p.R181R	NM_005931	NP_005922	Q29980	MICB_HUMAN			2	659	+			181						Silent	SNP	ENST00000252229.6	37	c.543C>T	CCDS43449.1																																																																																				0.532	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	
MEP1A	4224	broad.mit.edu	37	6	46797155	46797155	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46797155G>A	ENST00000230588.4	+	10	1000	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	331	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGCCCTACTGGAGTCTCGGAT	0.532																																						uc011dwh.1																			0		p.V359I(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1075-1077)Gag>Aag		Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.							92.0	99.0	96.0					6																	46797155		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46797155G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.991G>A	6.37:g.46797155G>A	ENSP00000230588:p.Glu331Lys					MEP1A_uc010jzh.1_Missense_Mutation_p.E331K|MEP1A_uc011dwg.1_Missense_Mutation_p.E53K|MEP1A_uc011dwi.1_Missense_Mutation_p.E231K	p.E359K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	1083	+			331			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1075G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742160	0.89573	.	.	ENSG00000112818	ENST00000230588	T	0.02140	4.43	5.67	4.81	0.61882	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.090336	0.85682	D	0.000000	T	0.09774	0.0240	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01212	-1.1417	10	0.87932	D	0	-31.4897	14.6657	0.68907	0.0697:0.0:0.9303:0.0	.	359;331	B7ZL91;Q16819	.;MEP1A_HUMAN	K	331	ENSP00000230588:E331K	ENSP00000230588:E331K	E	+	1	0	MEP1A	46905114	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	8.003000	0.88520	1.407000	0.46875	-0.145000	0.13849	GAG		0.532	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	
GPR116	221395	broad.mit.edu	37	6	46845996	46845996	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46845996C>A	ENST00000283296.7	-	10	1471	c.1183G>T	c.(1183-1185)Ggt>Tgt	p.G395C	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.G395C|GPR116_ENST00000265417.7_Missense_Mutation_p.G395C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	395	Ig-like 2.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTAACATTACCCTGACTGCAG	0.373																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1183-1185)Ggt>Tgt		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							166.0	153.0	157.0					6																	46845996		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46845996C>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1183G>T	6.37:g.46845996C>A	ENSP00000283296:p.Gly395Cys					GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G395C|GPR116_uc010jzi.1_Missense_Mutation_p.G67C|GPR116_uc003oyr.2_Missense_Mutation_p.G395C	p.G395C	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		9	1472	-			395			Ig-like 2.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1183G>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	6.585	0.476233	0.12521	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000265417	T;T;T	0.27104	1.69;2.04;1.69	6.01	2.37	0.29283	Immunoglobulin-like (1);	1.241570	0.05315	N	0.525513	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	B;B;B	0.31859	0.343;0.343;0.343	B;B;B	0.29716	0.106;0.106;0.106	T	0.38672	-0.9650	10	0.49607	T	0.09	0.0075	7.6291	0.28228	0.0:0.2396:0.0:0.7604	.	395;395;395	E9PBS6;A8K0D8;Q8IZF2	.;.;GP116_HUMAN	C	395	ENSP00000283296:G395C;ENSP00000354563:G395C;ENSP00000265417:G395C	ENSP00000265417:G395C	G	-	1	0	GPR116	46953955	0.072000	0.21174	0.028000	0.17463	0.009000	0.06853	0.934000	0.28910	0.177000	0.19895	-0.295000	0.09555	GGT		0.373	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
SYNE1	23345	broad.mit.edu	37	6	152527476	152527476	+	Missense_Mutation	SNP	G	G	A	rs200236760		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:152527476G>A	ENST00000367255.5	-	126	23447	c.22846C>T	c.(22846-22848)Cgg>Tgg	p.R7616W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2140W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7228W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7616W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7616					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTGTTGCCGCAGAAACACT	0.483										HNSCC(10;0.0054)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		19022	0.0		0.0	False		,,,				2504	0.0					uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22846-22848)Cgg>Tgg		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	62.0	65.0		22633,22846	2.9	1.0	6		65	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	7545/8750,7616/8798	152527476	1,13005	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152527476G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22846C>T	6.37:g.152527476G>A	ENSP00000356224:p.Arg7616Trp	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R2140W|SYNE1_uc003qot.4_Missense_Mutation_p.R7545W|SYNE1_uc003qou.4_Missense_Mutation_p.R7616W|SYNE1_uc003qor.4_Missense_Mutation_p.R516W	p.R7616W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	123	23069	-		Ovarian(120;0.0955)	7616					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22846C>T	CCDS5236.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.50	2.553333	0.45487	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.58797	0.4;1.32;0.41;0.31;0.4;0.53;2.4;1.49	5.81	2.87	0.33458	.	0.000000	0.49916	D	0.000124	T	0.70150	0.3191	M	0.80183	2.485	0.39897	D	0.973852	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.77710	-0.2486	10	0.87932	D	0	.	15.5823	0.76455	0.0:0.0:0.424:0.576	.	7616;7616;7545;7545	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	W	7616;262;7545;7616;7545;7228;2140;538	ENSP00000356224:R7616W;ENSP00000356226:R262W;ENSP00000396024:R7545W;ENSP00000265368:R7616W;ENSP00000390975:R7545W;ENSP00000341887:R7228W;ENSP00000349276:R2140W;ENSP00000356220:R538W	ENSP00000265368:R7616W	R	-	1	2	SYNE1	152569169	0.959000	0.32827	0.988000	0.46212	0.382000	0.30200	0.791000	0.26915	0.735000	0.32537	0.591000	0.81541	CGG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
UNC93A	54346	broad.mit.edu	37	6	167709567	167709567	+	Missense_Mutation	SNP	C	C	T	rs202053224		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:167709567C>T	ENST00000230256.3	+	3	492	c.317C>T	c.(316-318)cCg>cTg	p.P106L	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.P106L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGCCGCCCCGCTGTGGTCT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20540	0.001		0.0	False		,,,				2504	0.0					uc003qvq.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(316-318)cCg>cTg		Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.																																				SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167709567C>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.317C>T	6.37:g.167709567C>T	ENSP00000230256:p.Pro106Leu					UNC93A_uc003qvr.3_Missense_Mutation_p.P106L	p.P106L	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	492	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	106					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.317C>T	CCDS5300.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.64	2.892490	0.52121	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.34859	1.34;1.34;1.34	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);	0.114043	0.64402	D	0.000010	T	0.25232	0.0613	M	0.69823	2.125	0.80722	D	1	P;P	0.50819	0.939;0.55	P;B	0.44696	0.458;0.344	T	0.34675	-0.9819	10	0.02654	T	1	-41.2262	17.8882	0.88863	0.0:1.0:0.0:0.0	.	106;106	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	L	106	ENSP00000421484:P106L;ENSP00000230256:P106L;ENSP00000355794:P106L	ENSP00000230256:P106L	P	+	2	0	UNC93A	167629557	0.998000	0.40836	0.257000	0.24404	0.306000	0.27790	5.033000	0.64146	2.463000	0.83235	0.655000	0.94253	CCG		0.557	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
SDK1	221935	broad.mit.edu	37	7	4153883	4153883	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:4153883T>C	ENST00000404826.2	+	25	3939	c.3800T>C	c.(3799-3801)gTg>gCg	p.V1267A	SDK1_ENST00000389531.3_Missense_Mutation_p.V1267A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1267	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGAGGTGGTGCGGGGCCGG	0.637																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3799-3801)gTg>gCg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							23.0	23.0	23.0					7																	4153883		2200	4299	6499	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153883T>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3800T>C	7.37:g.4153883T>C	ENSP00000385899:p.Val1267Ala					SDK1_uc010kso.3_Missense_Mutation_p.V543A	p.V1267A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3939	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1267			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3800T>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.275146	0.23307	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56275	0.47;0.47	5.38	5.38	0.77491	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.179500	0.35495	N	0.003165	T	0.49201	0.1543	M	0.62154	1.92	0.33676	D	0.611561	P;B	0.38335	0.627;0.209	B;B	0.37422	0.249;0.018	T	0.59257	-0.7488	10	0.11794	T	0.64	.	15.4199	0.75003	0.0:0.0:0.0:1.0	.	1267;1267	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	A	1267	ENSP00000385899:V1267A;ENSP00000374182:V1267A	ENSP00000374182:V1267A	V	+	2	0	SDK1	4120409	1.000000	0.71417	0.986000	0.45419	0.445000	0.32107	5.800000	0.69108	2.030000	0.59900	0.533000	0.62120	GTG		0.637	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
DPY19L2P1	554236	broad.mit.edu	37	7	35187487	35187487	+	IGR	SNP	C	C	T	rs73095561	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:35187487C>T								DPY19L2P1 (40141 upstream) : TBX20 (54554 downstream)																							CCACATCACACGGGTGGCCTG	0.353													C|||	126	0.0251597	0.0023	0.0418	5008	,	,		16802	0.0		0.0835	False		,,,				2504	0.0102					uc003teq.1																			0													Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																																				SO:0001628	intergenic_variant	554236							g.chr7:35187487C>T																													7.37:g.35187487C>T						DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript								7		-									Translation_Start_Site	SNP		37																																																																																					0	0.353								
ZNF679	168417	broad.mit.edu	37	7	63727109	63727109	+	Silent	SNP	T	T	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:63727109T>A	ENST00000421025.1	+	5	1367	c.1098T>A	c.(1096-1098)acT>acA	p.T366T	ZNF679_ENST00000255746.4_Silent_p.T366T	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTCCTCAACTCTTAATACTC	0.378																																						uc003tsx.3																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(1096-1098)acT>acA		Homo sapiens zinc finger protein 679 (ZNF679), mRNA.							62.0	61.0	61.0					7																	63727109		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63727109T>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1098T>A	7.37:g.63727109T>A							p.T366T	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			4	1367	+			366						Silent	SNP	ENST00000421025.1	37	c.1098T>A	CCDS47592.1																																																																																				0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363	
MUC17	140453	broad.mit.edu	37	7	100696360	100696360	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:100696360C>T	ENST00000306151.4	+	10	13261	c.13197C>T	c.(13195-13197)gtC>gtT	p.V4399V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4399					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCAGGGGTCGTGCTGATGC	0.587																																						uc003uxp.1																			0		p.G4398G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13195-13197)gtC>gtT		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							98.0	82.0	87.0					7																	100696360		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696360C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13197C>T	7.37:g.100696360C>T						MUC17_uc010lho.1_Non-coding_Transcript	p.V4399V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			9	13250	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4399					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13197C>T	CCDS34711.1																																																																																				0.587	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
OR2A42	402317	broad.mit.edu	37	7	143929644	143929644	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:143929644G>A	ENST00000391496.1	-	1	292	c.293C>T	c.(292-294)aCg>aTg	p.T98M	RP4-545C24.1_ENST00000480074.1_RNA|RP4-545C24.1_ENST00000477797.1_RNA|RP4-545C24.1_ENST00000493248.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000489077.1_RNA|RP4-545C24.1_ENST00000464929.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA	NM_001001802.2	NP_001001802.2	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 42	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T98M(1)		breast(1)|kidney(1)|large_intestine(1)|skin(1)	4	Melanoma(164;0.14)					AAAGGTCTGCGTCATGCAACC	0.572																																						uc011kub.2																			1	Substitution - Missense(1)	p.T98M(1)	breast(1)	large_intestine(1)|lung(3)|skin(2)	6						c.(292-294)aCg>aTg		Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.							74.0	85.0	82.0					7																	143929644		1551	3704	5255	SO:0001583	missense	346528				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143929644G>A		CCDS56515.1	7q35	2013-09-20			ENSG00000212807	ENSG00000212807		"""GPCR / Class A : Olfactory receptors"""	31230	protein-coding gene	gene with protein product							Standard	NM_001001802		Approved			Q8NGT9	OTTHUMG00000157995	ENST00000391496.1:c.293C>T	7.37:g.143929644G>A	ENSP00000375334:p.Thr98Met						p.T98M	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN			0	293	-	Melanoma(164;0.14)		98					Q6IF44|Q96R46	Missense_Mutation	SNP	ENST00000391496.1	37	c.293C>T	CCDS56515.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.568150	0.00133	.	.	ENSG00000212807	ENST00000391496	T	0.02974	4.09	2.77	-0.171	0.13331	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02012	0.0063	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.48885	-0.8995	8	0.16896	T	0.51	.	9.4657	0.38811	0.2288:0.0:0.7712:0.0	.	98	Q8NGT9	OR2A1_HUMAN	M	98	ENSP00000375334:T98M	ENSP00000375334:T98M	T	-	2	0	OR2A42	143560577	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	-0.458000	0.06737	-0.055000	0.13244	-1.823000	0.00598	ACG		0.572	OR2A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349968.1		
NOBOX	135935	broad.mit.edu	37	7	144098530	144098530	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:144098530G>A	ENST00000467773.1	-	4	452	c.453C>T	c.(451-453)acC>acT	p.T151T	NOBOX_ENST00000483238.1_Silent_p.T151T|NOBOX_ENST00000223140.5_Silent_p.T66T	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	151					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CATCAGCCCCGGTGGCTTCTC	0.637																																						uc022aoj.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(451-453)acC>acT		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							22.0	25.0	24.0					7																	144098530		1885	4098	5983	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098530G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.453C>T	7.37:g.144098530G>A							p.T151T	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	453	-	Melanoma(164;0.14)		151					A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.453C>T																																																																																					0.637	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
CALB1	793	broad.mit.edu	37	8	91094855	91094855	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:91094855T>C	ENST00000265431.3	-	1	252	c.71A>G	c.(70-72)gAc>gGc	p.D24G	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	24	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACCGTCAGCGTCGAAATGGAG	0.502																																					Melanoma(46;573 1182 27367 39727 48386)	uc003yel.1																			0				breast(1)|kidney(1)|lung(8)|pancreas(1)	11						c.(70-72)gAc>gGc		Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.							264.0	230.0	242.0					8																	91094855		2203	4300	6503	SO:0001583	missense	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91094855T>C		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.71A>G	8.37:g.91094855T>C	ENSP00000265431:p.Asp24Gly					CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	p.D24G	NM_004929	NP_004920	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		0	253	-			24			EF-hand 1.		B2R696|B7Z9J4	Missense_Mutation	SNP	ENST00000265431.3	37	c.71A>G	CCDS6251.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471553	0.84533	.	.	ENSG00000104327	ENST00000265431	D	0.90004	-2.6	5.68	5.68	0.88126	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.91818	3.245	0.80722	D	1	D	0.53885	0.963	P	0.54210	0.745	D	0.94947	0.8096	10	0.87932	D	0	-17.1747	13.4413	0.61114	0.0:0.0:0.0:1.0	.	24	P05937	CALB1_HUMAN	G	24	ENSP00000265431:D24G	ENSP00000265431:D24G	D	-	2	0	CALB1	91164031	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.076000	0.64413	2.161000	0.67846	0.460000	0.39030	GAC		0.502	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929	
ASAP1	50807	broad.mit.edu	37	8	131140283	131140283	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:131140283C>T	ENST00000518721.1	-	16	1498	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	ASAP1_ENST00000357668.1_Missense_Mutation_p.R424H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	424					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTGCTCTCCACGGAAGGCCAT	0.458																																						uc003yta.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1270-1272)cGt>cAt		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.							105.0	95.0	98.0					8																	131140283		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131140283C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1271G>A	8.37:g.131140283C>T	ENSP00000429900:p.Arg424His					ASAP1_uc003ysz.2_Missense_Mutation_p.R235H|ASAP1_uc011liw.2_Missense_Mutation_p.R417H	p.R424H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			15	1499	-			424					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1271G>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263184	0.59431	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06294	3.32;3.32	5.99	5.11	0.69529	.	0.199482	0.46758	D	0.000264	T	0.06917	0.0176	N	0.19112	0.55	0.80722	D	1	B;B;P	0.46706	0.021;0.021;0.883	B;B;P	0.45538	0.003;0.003;0.484	T	0.22906	-1.0203	10	0.56958	D	0.05	.	13.7539	0.62923	0.0:0.927:0.0:0.073	.	424;424;427	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	H	427;424;424	ENSP00000350297:R424H;ENSP00000429900:R424H	ENSP00000344591:R427H	R	-	2	0	ASAP1	131209465	0.966000	0.33281	0.864000	0.33941	0.830000	0.47004	3.070000	0.50033	2.847000	0.97988	0.655000	0.94253	CGT		0.458	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ANKS6	203286	broad.mit.edu	37	9	101530471	101530471	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:101530471T>A	ENST00000353234.4	-	11	2081	c.2034A>T	c.(2032-2034)ttA>ttT	p.L678F	ANKS6_ENST00000540940.1_Missense_Mutation_p.L483F|ANKS6_ENST00000375018.1_Missense_Mutation_p.L678F|ANKS6_ENST00000375019.2_Missense_Mutation_p.L377F			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	678	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTGCTCCAATAATCCGGCTG	0.582																																						uc004ayu.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2032-2034)ttA>ttT		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.							52.0	57.0	55.0					9																	101530471		1984	4171	6155	SO:0001583	missense	203286							g.chr9:101530471T>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2034A>T	9.37:g.101530471T>A	ENSP00000297837:p.Leu678Phe					ANKS6_uc004ayv.2_Missense_Mutation_p.L140F|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.L377F	p.L678F	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			10	2055	-		Acute lymphoblastic leukemia(62;0.0527)	678			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.2034A>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.83|17.83	3.484491|3.484491	0.63962|0.63962	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.72835	.|1.59;-0.69;-0.57;1.77	5.88|5.88	-6.0|-6.0	0.02206|0.02206	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	0.999995|0.999995	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.69479	.|0.964;0.922	T|T	0.70802|0.70802	-0.4773|-0.4773	5|10	.|0.72032	.|D	.|0.01	-5.5991|-5.5991	9.9656|9.9656	0.41723|0.41723	0.0:0.5434:0.2456:0.211|0.0:0.5434:0.2456:0.211	.|.	.|678;678	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	F|F	147|377;678;678;483	.|ENSP00000364159:L377F;ENSP00000364158:L678F;ENSP00000297837:L678F;ENSP00000442189:L483F	.|ENSP00000297837:L678F	I|L	-|-	1|3	0|2	ANKS6|ANKS6	100570292|100570292	0.341000|0.341000	0.24801|0.24801	0.000000|0.000000	0.03702|0.03702	0.524000|0.524000	0.34500|0.34500	-0.495000|-0.495000	0.06443|0.06443	-1.145000|-1.145000	0.02858|0.02858	0.459000|0.459000	0.35465|0.35465	ATT|TTA		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
SMC2	10592	broad.mit.edu	37	9	106889054	106889054	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:106889054G>A	ENST00000286398.7	+	19	2872	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	SMC2_ENST00000303219.8_Missense_Mutation_p.A862T|SMC2_ENST00000374793.3_Missense_Mutation_p.A862T|SMC2_ENST00000374787.3_Missense_Mutation_p.A862T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	862					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCTGAGGTGGCTAAAAATAA	0.338																																						uc004bbv.3																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2584-2586)Gct>Act		Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.							73.0	77.0	76.0					9																	106889054		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889054G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2584G>A	9.37:g.106889054G>A	ENSP00000286398:p.Ala862Thr					SMC2_uc004bbw.3_Missense_Mutation_p.A862T|SMC2_uc011lvl.2_Missense_Mutation_p.A862T|SMC2_uc004bbx.3_Missense_Mutation_p.A862T|SMC2_uc004bby.3_5'Flank	p.A862T	NM_001042551	NP_006435	O95347	SMC2_HUMAN			18	2872	+			862					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2584G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958333	0.34565	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.09	4.19	0.49359	RecF/RecN/SMC (1);	0.293089	0.38058	N	0.001826	T	0.65984	0.2744	N	0.21508	0.67	0.34327	D	0.687257	B	0.25272	0.122	B	0.29267	0.1	T	0.70063	-0.4975	10	0.37606	T	0.19	-5.9929	12.3484	0.55134	0.0829:0.0:0.9171:0.0	.	862	O95347	SMC2_HUMAN	T	862	ENSP00000286398:A862T;ENSP00000363925:A862T;ENSP00000306152:A862T;ENSP00000363919:A862T	ENSP00000286398:A862T	A	+	1	0	SMC2	105928875	0.855000	0.29742	1.000000	0.80357	0.992000	0.81027	1.286000	0.33273	1.266000	0.44231	0.484000	0.47621	GCT		0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
COL27A1	85301	broad.mit.edu	37	9	117014903	117014903	+	Missense_Mutation	SNP	G	G	A	rs141446597		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:117014903G>A	ENST00000356083.3	+	26	3455	c.3064G>A	c.(3064-3066)Gtg>Atg	p.V1022M		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1022	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCCCCAGGCGTGCCTGGACC	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20806	0.0		0.0	False		,,,				2504	0.0					uc011lxl.2																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3064-3066)Gtg>Atg		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.		G	MET/VAL	0,4406		0,0,2203	146.0	137.0	140.0		3064	4.3	0.0	9	dbSNP_134	140	3,8597	3.0+/-9.4	0,3,4297	no	missense	COL27A1	NM_032888.2	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1022/1861	117014903	3,13003	2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117014903G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3064G>A	9.37:g.117014903G>A	ENSP00000348385:p.Val1022Met					COL27A1_uc004bii.3_Non-coding_Transcript	p.V1022M	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			25	3064	+			1022			Collagen-like 7.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3064G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101800	0.37048	0.0	3.49E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93604	-3.25	5.24	4.33	0.51752	.	.	.	.	.	D	0.84862	0.5566	N	0.21282	0.65	0.09310	N	1	P	0.49358	0.923	B	0.32289	0.143	T	0.75639	-0.3248	9	0.34782	T	0.22	.	11.6088	0.51047	0.0:0.179:0.821:0.0	.	1022	Q8IZC6	CORA1_HUMAN	M	1022	ENSP00000348385:V1022M	ENSP00000348385:V1022M	V	+	1	0	COL27A1	116054724	0.377000	0.25106	0.008000	0.14137	0.951000	0.60555	3.305000	0.51873	1.407000	0.46875	0.561000	0.74099	GTG		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
FAM47B	170062	broad.mit.edu	37	X	34962109	34962109	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:34962109G>A	ENST00000329357.5	+	1	1197	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	387										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATCCTGTCCGCGGCCTTTTG	0.567																																						uc004ddi.2																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1159-1161)ccG>ccA		Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.							48.0	46.0	47.0					X																	34962109		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34962109G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1161G>A	X.37:g.34962109G>A							p.P387P	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			0	1197	+			387					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1161G>A	CCDS14236.1																																																																																				0.567	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
RP1-274L7.1	0	broad.mit.edu	37	X	129629950	129629950	+	lincRNA	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:129629950G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA														p.G273D(1)									ATGGCAATGGGCAAACTGCAC	0.448																																						uc010nrh.3																			1	Substitution - Missense(1)	p.G273D(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14						c.(817-819)gGc>gAc		Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.							204.0	173.0	184.0					X																	129629950		2203	4300	6503			55855							g.chrX:129629950G>A																													X.37:g.129629950G>A						BC043223_uc004evu.3_Intron	p.G273D	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	0	1036	+		Lung NSC(174;0.094)|all_lung(145;0.123)	273						Missense_Mutation	SNP	ENST00000458525.1	37	c.818G>A																																																																																					0.448	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1		
