#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
TAS1R1	80835	broad.mit.edu	37	1	6634905	6634905	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:6634905G>A	ENST00000333172.6	+	3	906	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.C238Y	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	238					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGGATCTGCATTGCTTTC	0.622																																						uc001ant.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(712-714)tGc>tAc		Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.							94.0	97.0	96.0					1																	6634905		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634905G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.713G>A	1.37:g.6634905G>A	ENSP00000331867:p.Cys238Tyr					TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.C160Y	p.C238Y	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	809	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	238					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.713G>A	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.248193|4.248193	0.80024|0.80024	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000411823|ENST00000333172;ENST00000328191	.|D;D	.|0.88586	.|-2.4;-2.4	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96237|0.96237	0.8773|0.8773	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.97261|0.97261	0.9904|0.9904	5|10	.|0.87932	.|D	.|0	.|.	18.1607|18.1607	0.89707|0.89707	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|238;238	.|Q7RTX1-3;Q7RTX1	.|.;TS1R1_HUMAN	T|Y	164|238	.|ENSP00000331867:C238Y;ENSP00000327705:C238Y	.|ENSP00000327705:C238Y	A|C	+|+	1|2	0|0	TAS1R1|TAS1R1	6557492|6557492	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.815000|0.815000	0.46073|0.46073	9.545000|9.545000	0.98095|0.98095	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.622	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)gaafs		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	p.E115fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	3	449_450	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	115					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
KLHDC7A	127707	broad.mit.edu	37	1	18808936	18808936	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:18808936G>A	ENST00000400664.1	+	1	1513	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	487						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGCGCCGGCTCCGGGGCC	0.662																																						uc001bax.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1459-1461)cgG>cgA		Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.							29.0	35.0	33.0					1																	18808936		2196	4293	6489	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18808936G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1461G>A	1.37:g.18808936G>A						KLHDC7A_uc009vpg.3_Silent_p.R269R	p.R487R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	1513	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	487					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1461G>A	CCDS185.2																																																																																				0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375	
RSPO1	284654	broad.mit.edu	37	1	38079485	38079485	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:38079485G>A	ENST00000401069.1	-	6	1228	c.516C>T	c.(514-516)tcC>tcT	p.S172S	RSPO1_ENST00000373059.1_Silent_p.S145S|RSPO1_ENST00000401068.1_Silent_p.S172S|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000356545.2_Silent_p.S172S|RSPO1_ENST00000401071.2_Intron	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	172	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCGCTCCTCGGAGCCCCTCC	0.632																																					GBM(122;680 2230 27822 42821)	uc001cbl.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(514-516)tcC>tcT		Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.							48.0	53.0	51.0					1																	38079485		1974	4160	6134	SO:0001819	synonymous_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079485G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.516C>T	1.37:g.38079485G>A						RSPO1_uc009vvf.2_Silent_p.S145S|RSPO1_uc001cbm.2_Silent_p.S172S|RSPO1_uc009vvg.2_Intron	p.S172S	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN			6	1408	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	172			TSP type-1.		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	37	c.516C>T	CCDS41304.1																																																																																				0.632	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640	
MACF1	23499	broad.mit.edu	37	1	39799225	39799225	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:39799225C>T	ENST00000372915.3	+	36	7067	c.6980C>T	c.(6979-6981)gCc>gTc	p.A2327V	MACF1_ENST00000567887.1_Missense_Mutation_p.A2359V|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A762V|MACF1_ENST00000564288.1_Missense_Mutation_p.A2322V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2327					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTCACACTGCCGTGAAGCTT	0.423																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2284-2286)gCc>gTc		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							76.0	76.0	76.0					1																	39799225		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799225C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6980C>T	1.37:g.39799225C>T	ENSP00000362006:p.Ala2327Val					MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	p.A762V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		0	2285	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2327					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2285C>T		.	.	.	.	.	.	.	.	.	.	C	16.49	3.136706	0.56936	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.77229	-1.08;-1.08	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000061	D	0.87853	0.6282	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88588	0.3141	10	0.72032	D	0.01	.	19.3378	0.94326	0.0:1.0:0.0:0.0	.	2327	Q9UPN3	MACF1_HUMAN	V	2327;762	ENSP00000362006:A2327V;ENSP00000289893:A762V	ENSP00000289893:A762V	A	+	2	0	MACF1	39571812	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.810000	0.86072	2.561000	0.86390	0.563000	0.77884	GCC		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MOB3C	148932	broad.mit.edu	37	1	47078629	47078629	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:47078629A>G	ENST00000319928.3	-	2	595	c.365T>C	c.(364-366)aTg>aCg	p.M122T	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.M174T|MOB3C_ENST00000371940.1_Missense_Mutation_p.M145T|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	122							metal ion binding (GO:0046872)										GATCCAGTCCATGAGCAATGC	0.652																																						uc001cqe.4																			0											c.(520-522)aTg>aCg		Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.							43.0	47.0	46.0					1																	47078629		2202	4298	6500	SO:0001583	missense	148932						metal ion binding	g.chr1:47078629A>G	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.365T>C	1.37:g.47078629A>G	ENSP00000315113:p.Met122Thr					MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Missense_Mutation_p.M122T	p.M174T	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN			1	578	-			122					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.521T>C	CCDS540.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709003	0.89018	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85444	0.5698	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89078	0.3474	9	0.87932	D	0	-39.5315	14.355	0.66730	1.0:0.0:0.0:0.0	.	122	Q70IA8	MOB3C_HUMAN	T	122;174;145	.	ENSP00000271139:M174T	M	-	2	0	MOBKL2C	46851216	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.324000	0.96373	1.992000	0.58205	0.455000	0.32223	ATG		0.652	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279	
C1orf177	163747	broad.mit.edu	37	1	55273665	55273665	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:55273665G>A	ENST00000371273.3	+	4	476	c.461G>A	c.(460-462)cGc>cAc	p.R154H	C1orf177_ENST00000358193.3_Missense_Mutation_p.R154H	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	154										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGGGAGGTTCGCTTCCGAGGA	0.552																																						uc001cyb.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(460-462)cGc>cAc		Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.							60.0	70.0	67.0					1																	55273665		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55273665G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.461G>A	1.37:g.55273665G>A	ENSP00000360320:p.Arg154His					C1orf177_uc001cya.4_Missense_Mutation_p.R154H	p.R154H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			3	515	+			154					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.461G>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414356	0.96092	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.25579	1.79;1.79	5.37	5.37	0.77165	.	0.192662	0.32015	N	0.006707	T	0.50480	0.1618	M	0.70275	2.135	0.41359	D	0.987411	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.53173	-0.8476	10	0.87932	D	0	-14.8081	14.5957	0.68403	0.0:0.0:1.0:0.0	.	154;154	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	H	154	ENSP00000350924:R154H;ENSP00000360320:R154H	ENSP00000350924:R154H	R	+	2	0	C1orf177	55046253	0.998000	0.40836	0.809000	0.32408	0.938000	0.57974	4.827000	0.62723	2.531000	0.85337	0.561000	0.74099	CGC		0.552	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
INADL	10207	broad.mit.edu	37	1	62253476	62253476	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:62253476C>T	ENST00000371158.2	+	8	1014	c.900C>T	c.(898-900)aaC>aaT	p.N300N	INADL_ENST00000316485.6_Silent_p.N300N	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	300	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGGCACAAACGTGCAGGGAA	0.438																																						uc001dab.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(898-900)aaC>aaT		Homo sapiens InaD-like (Drosophila) (INADL), mRNA.							95.0	83.0	87.0					1																	62253476		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62253476C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.900C>T	1.37:g.62253476C>T						INADL_uc009waf.1_Silent_p.N300N|INADL_uc001daa.2_Silent_p.N300N|INADL_uc001dad.3_5'UTR	p.N300N	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			7	1014	+			300			PDZ 2.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.900C>T	CCDS617.2																																																																																				0.438	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
TRIM45	80263	broad.mit.edu	37	1	117663350	117663350	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:117663350G>A	ENST00000256649.4	-	1	1000	c.474C>T	c.(472-474)tgC>tgT	p.C158C	TRIM45_ENST00000369461.3_Silent_p.C101C|TRIM45_ENST00000369464.3_Silent_p.C158C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	158					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GAGCCTGGCAGCAGAAGTGGC	0.527																																						uc001egz.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(472-474)tgC>tgT		Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.							98.0	92.0	94.0					1																	117663350		2203	4300	6503	SO:0001819	synonymous_variant	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117663350G>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.474C>T	1.37:g.117663350G>A						TRIM45_uc009whe.2_Silent_p.C158C	p.C158C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	0	1062	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	158					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	ENST00000256649.4	37	c.474C>T	CCDS893.1																																																																																				0.527	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188	
TCHH	7062	broad.mit.edu	37	1	152083970	152083970	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:152083970G>A	ENST00000368804.1	-	2	1722	c.1723C>T	c.(1723-1725)Cgc>Tgc	p.R575C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	575	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGATCGCGCCTCTCCTCC	0.677																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1723-1725)Cgc>Tgc		Homo sapiens trichohyalin (TCHH), mRNA.							51.0	57.0	55.0					1																	152083970		2003	4166	6169	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083970G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1723C>T	1.37:g.152083970G>A	ENSP00000357794:p.Arg575Cys					TCHH_uc001ezp.2_Missense_Mutation_p.R575C	p.R575C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1995	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		575			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1723C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	9.026	0.986130	0.18889	.	.	ENSG00000159450	ENST00000368804	T	0.05382	3.45	2.83	-0.97	0.10306	.	.	.	.	.	T	0.02193	0.0068	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	P	0.50231	0.635	T	0.42258	-0.9462	9	0.62326	D	0.03	.	4.8871	0.13708	0.117:0.0:0.5281:0.3549	.	575	Q07283	TRHY_HUMAN	C	575	ENSP00000357794:R575C	ENSP00000357794:R575C	R	-	1	0	TCHH	150350594	0.001000	0.12720	0.001000	0.08648	0.266000	0.26442	0.919000	0.28692	-0.013000	0.14199	0.175000	0.17021	CGC		0.677	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
SPTA1	6708	broad.mit.edu	37	1	158606471	158606471	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:158606471C>T	ENST00000368147.4	-	37	5450	c.5270G>A	c.(5269-5271)cGc>cAc	p.R1757H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1757					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCCTCTAGGCGTTTGTGCTT	0.473																																						uc001fst.1																			0		p.R1757C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5269-5271)cGc>cAc		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							116.0	114.0	115.0					1																	158606471		1862	4097	5959	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158606471C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5270G>A	1.37:g.158606471C>T	ENSP00000357129:p.Arg1757His						p.R1757H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			36	5469	-	all_hematologic(112;0.0378)		1757					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5270G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343774	0.82022	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53206	0.63;0.63	5.26	4.36	0.52297	.	.	.	.	.	T	0.42314	0.1197	M	0.65320	2	0.48571	D	0.999671	P	0.49253	0.921	P	0.51866	0.682	T	0.37454	-0.9705	9	0.39692	T	0.17	.	11.0747	0.48025	0.0:0.9143:0.0:0.0857	.	1757	P02549	SPTA1_HUMAN	H	1757	ENSP00000357130:R1757H;ENSP00000357129:R1757H	ENSP00000357129:R1757H	R	-	2	0	SPTA1	156873095	1.000000	0.71417	0.491000	0.27477	0.953000	0.61014	5.136000	0.64783	1.467000	0.48044	0.650000	0.86243	CGC		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
PYHIN1	149628	broad.mit.edu	37	1	158906881	158906881	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:158906881G>A	ENST00000368140.1	+	2	426	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	PYHIN1_ENST00000368138.3_Missense_Mutation_p.G61S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G61S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.G61S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.G61S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	61	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGGTGATGCCGGTTTGGGCAA	0.368																																						uc001ftb.3																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(181-183)Ggt>Agt		Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.							69.0	71.0	70.0					1																	158906881		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158906881G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.181G>A	1.37:g.158906881G>A	ENSP00000357122:p.Gly61Ser					PYHIN1_uc001fta.4_Missense_Mutation_p.G61S|PYHIN1_uc001ftc.3_Missense_Mutation_p.G61S|PYHIN1_uc001ftd.3_Missense_Mutation_p.G61S|PYHIN1_uc001fte.3_Missense_Mutation_p.G61S	p.G61S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			1	431	+	all_hematologic(112;0.0378)		61			DAPIN.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.181G>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	8.728	0.915971	0.17907	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	2.83	0.636	0.17729	Pyrin (2);	.	.	.	.	T	0.38558	0.1045	M	0.62723	1.935	0.09310	N	1	D;D;D;D;D	0.89917	0.995;0.986;0.995;0.975;1.0	P;P;P;P;D	0.91635	0.837;0.761;0.761;0.771;0.999	T	0.12889	-1.0530	9	0.21014	T	0.42	.	2.9892	0.05978	0.1813:0.0:0.4061:0.4126	.	61;61;61;61;61	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	S	61	ENSP00000407616:G61S;ENSP00000357122:G61S;ENSP00000357120:G61S;ENSP00000376083:G61S;ENSP00000376082:G61S;ENSP00000357117:G61S	ENSP00000357117:G61S	G	+	1	0	PYHIN1	157173505	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	1.162000	0.31786	0.016000	0.14998	-0.253000	0.11424	GGT		0.368	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
IGFN1	91156	broad.mit.edu	37	1	201195009	201195009	+	Missense_Mutation	SNP	C	C	T	rs145852390		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:201195009C>T	ENST00000335211.4	+	22	10674	c.10544C>T	c.(10543-10545)aCg>aTg	p.T3515M	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1058						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGACGGTGACGGCCGAGTGG	0.687																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10543-10545)aCg>aTg		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.		C	MET/THR	0,4406		0,0,2203	47.0	44.0	45.0		10544	4.3	0.8	1	dbSNP_134	45	1,8597	1.2+/-3.3	0,1,4298	no	missense	IGFN1	NM_001164586.1	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3515/3709	201195009	1,13003	2203	4299	6502	SO:0001583	missense	91156							g.chr1:201195009C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10544C>T	1.37:g.201195009C>T	ENSP00000334714:p.Thr3515Met					IGFN1_uc001gwb.3_Non-coding_Transcript	p.T3515M	NM_001164586	NP_001158058					21	10674	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10544C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211700	0.58452	0.0	1.16E-4	ENSG00000163395	ENST00000335211	T	0.59224	0.28	5.19	4.28	0.50868	.	0.057032	0.64402	D	0.000001	T	0.76069	0.3936	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79633	-0.1722	10	0.72032	D	0.01	.	12.131	0.53942	0.0:0.921:0.0:0.079	.	3515	F8WAI1	.	M	3515	ENSP00000334714:T3515M	ENSP00000334714:T3515M	T	+	2	0	IGFN1	199461632	1.000000	0.71417	0.773000	0.31616	0.249000	0.25844	4.433000	0.59929	1.436000	0.47453	0.561000	0.74099	ACG		0.687	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
OR2T33	391195	broad.mit.edu	37	1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:248436203G>A	ENST00000318021.2	-	1	935	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTTACACACGTCCCCAGCCA	0.423																																						uc010pzi.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(913-915)aCg>aTg		Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.							158.0	158.0	158.0					1																	248436203		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436203G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.914C>T	1.37:g.248436203G>A	ENSP00000324687:p.Thr305Met						p.T305M	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	914	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		305					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.914C>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.832	-0.744874	0.03065	.	.	ENSG00000177212	ENST00000318021	T	0.36878	1.23	1.31	0.0343	0.14183	.	1.312490	0.06382	N	0.715485	T	0.18087	0.0434	N	0.19112	0.55	0.09310	N	1	P	0.41710	0.76	B	0.28139	0.086	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.206	0.15291	0.0:0.0:0.311:0.689	.	305	Q8NG76	O2T33_HUMAN	M	305	ENSP00000324687:T305M	ENSP00000324687:T305M	T	-	2	0	OR2T33	246502826	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	-0.332000	0.07904	-0.000000	0.14550	0.175000	0.17021	ACG		0.423	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
NEBL	10529	broad.mit.edu	37	10	21120216	21120216	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr10:21120216A>G	ENST00000377122.4	-	16	1976	c.1580T>C	c.(1579-1581)tTa>tCa	p.L527S	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	527					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCATTTTCTAAGTCCTTCTT	0.353																																						uc001iqi.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1579-1581)tTa>tCa		Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.							139.0	125.0	130.0					10																	21120216		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21120216A>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1580T>C	10.37:g.21120216A>G	ENSP00000366326:p.Leu527Ser					NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	p.L527S	NM_006393	NP_006384	O76041	NEBL_HUMAN			15	1977	-			527					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1580T>C	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017015	0.75161	.	.	ENSG00000078114	ENST00000377122	T	0.50548	0.74	5.78	5.78	0.91487	.	0.272209	0.31051	N	0.008344	T	0.61974	0.2390	M	0.84846	2.72	0.80722	D	1	P	0.41978	0.767	P	0.48304	0.573	T	0.61978	-0.6951	10	0.23891	T	0.37	.	16.0666	0.80887	1.0:0.0:0.0:0.0	.	527	O76041	NEBL_HUMAN	S	527	ENSP00000366326:L527S	ENSP00000366326:L527S	L	-	2	0	NEBL	21160222	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.630000	0.67805	2.333000	0.79357	0.482000	0.46254	TTA		0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
ADAM12	8038	broad.mit.edu	37	10	127755335	127755335	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr10:127755335A>G	ENST00000368679.4	-	13	1682	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.L458P	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	458	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCGGCTTCAGGGTACAGGT	0.547																																						uc001ljk.2																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1372-1374)cTg>cCg		Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.							96.0	83.0	88.0					10																	127755335		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127755335A>G	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1373T>C	10.37:g.127755335A>G	ENSP00000357668:p.Leu458Pro					ADAM12_uc010qul.1_Missense_Mutation_p.L409P|ADAM12_uc001ljm.3_Missense_Mutation_p.L458P|ADAM12_uc001ljn.3_Missense_Mutation_p.L455P|ADAM12_uc001ljl.4_Missense_Mutation_p.L455P	p.L458P	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	12	1786	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	458			Disintegrin.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1373T>C	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257129	0.80246	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.18657	2.2;2.2	4.56	4.56	0.56223	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.64402	D	0.000009	T	0.51432	0.1674	M	0.86864	2.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.61312	-0.7088	10	0.87932	D	0	.	14.3876	0.66956	1.0:0.0:0.0:0.0	.	455;455;458;455;458	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	P	458	ENSP00000357668:L458P;ENSP00000357665:L458P	ENSP00000357665:L458P	L	-	2	0	ADAM12	127745325	1.000000	0.71417	0.997000	0.53966	0.802000	0.45316	9.079000	0.94032	2.030000	0.59900	0.533000	0.62120	CTG		0.547	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
MICAL2	9645	broad.mit.edu	37	11	12278418	12278418	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:12278418G>A	ENST00000256194.4	+	24	3330	c.3042G>A	c.(3040-3042)cgG>cgA	p.R1014R	MICAL2_ENST00000342902.5_Silent_p.R993R|MICAL2_ENST00000379612.3_Silent_p.R788R|MICAL2_ENST00000537344.1_Silent_p.R824R|MICAL2_ENST00000527546.1_Silent_p.R824R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1014	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.R1014R(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGATGGAACGGCTGAGCGCCG	0.572																																						uc001mjz.3																			1	Substitution - coding silent(1)	p.R1014R(2)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3040-3042)cgG>cgA		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							128.0	102.0	111.0					11																	12278418		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12278418G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3042G>A	11.37:g.12278418G>A						MICAL2_uc010rch.1_Silent_p.R824R|MICAL2_uc001mka.3_Silent_p.R1014R|MICAL2_uc010rci.2_Silent_p.R993R|MICAL2_uc001mkb.3_Silent_p.R788R|MICAL2_uc001mkc.3_Silent_p.R767R|MICAL2_uc001mkd.3_Silent_p.R596R|MICAL2_uc010rcj.2_Silent_p.R226R|MICAL2_uc001mkf.3_Non-coding_Transcript	p.R1014R	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	23	3330	+			1014			LIM zinc-binding.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.3042G>A	CCDS7809.1																																																																																				0.572	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
AHNAK	79026	broad.mit.edu	37	11	62288237	62288237	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:62288237G>A	ENST00000378024.4	-	5	13926	c.13652C>T	c.(13651-13653)cCc>cTc	p.P4551L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4551					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACTTTGGGACCTTTCAG	0.423																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13651-13653)cCc>cTc		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							79.0	76.0	77.0					11																	62288237		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288237G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13652C>T	11.37:g.62288237G>A	ENSP00000367263:p.Pro4551Leu					AHNAK_uc001ntk.1_Intron	p.P4551L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	13952	-		Melanoma(852;0.155)	4551					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13652C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119717	0.77323	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	4.69	4.69	0.59074	.	0.584128	0.14744	N	0.301014	T	0.24586	0.0596	M	0.93507	3.425	0.80722	D	1	P	0.48764	0.915	P	0.47346	0.544	T	0.39961	-0.9588	10	0.62326	D	0.03	.	17.6231	0.88087	0.0:0.0:1.0:0.0	.	4551	Q09666	AHNK_HUMAN	L	4551	ENSP00000367263:P4551L	ENSP00000367263:P4551L	P	-	2	0	AHNAK	62044813	1.000000	0.71417	0.487000	0.27428	0.501000	0.33797	6.945000	0.75947	2.318000	0.78349	0.643000	0.83706	CCC		0.423	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
GANAB	23193	broad.mit.edu	37	11	62396739	62396739	+	Silent	SNP	G	G	A	rs192967712		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:62396739G>A	ENST00000356638.3	-	16	1879	c.1863C>T	c.(1861-1863)gcC>gcT	p.A621A	GANAB_ENST00000534779.1_Silent_p.A529A|GANAB_ENST00000540933.1_Silent_p.A524A|GANAB_ENST00000346178.4_Silent_p.A643A	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	621					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GGTCCCACTCGGCAGTGTTGT	0.527																																					Melanoma(23;1005 1074 15747 18937)	uc001nua.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1927-1929)gcC>gcT		Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.							97.0	88.0	91.0					11																	62396739		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396739G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1863C>T	11.37:g.62396739G>A						GANAB_uc001nub.3_Silent_p.A621A|GANAB_uc001nuc.3_Silent_p.A524A|GANAB_uc010rma.2_Silent_p.A529A|GANAB_uc010rmb.2_Silent_p.A507A	p.A643A	NM_198335	NP_938149	Q14697	GANAB_HUMAN			16	1962	-			621					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.1929C>T	CCDS8026.1																																																																																				0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	
MUS81	80198	broad.mit.edu	37	11	65628471	65628471	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:65628471C>T	ENST00000308110.4	+	2	512	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	CFL1_ENST00000531413.1_5'Flank|CFL1_ENST00000534769.1_Intron|MUS81_ENST00000533035.1_5'UTR|CFL1_ENST00000308162.5_5'Flank|CFL1_ENST00000525451.2_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	55					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACGGTACCCACTGCCGCTGCG	0.682								Homologous recombination																														uc001ofv.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(163-165)Ctg>Ttg	Homologous recombination	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.							33.0	40.0	38.0					11																	65628471		2200	4296	6496	SO:0001819	synonymous_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65628471C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.163C>T	11.37:g.65628471C>T						CFL1_uc001ofs.3_5'Flank|CFL1_uc001oft.3_5'Flank|MUS81_uc001ofx.4_5'Flank	p.L55L	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	1	516	+			55					Q9H7D9	Silent	SNP	ENST00000308110.4	37	c.163C>T	CCDS8115.1																																																																																				0.682	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128	
OR2AT4	341152	broad.mit.edu	37	11	74800717	74800717	+	Silent	SNP	G	G	A	rs201772462		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:74800717G>A	ENST00000305159.3	-	1	82	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GATAGAAGACGGGTGAGCCAT	0.478																																						uc010rro.2																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(40-42)ccC>ccT		Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.							54.0	56.0	55.0					11																	74800717		2200	4293	6493	SO:0001819	synonymous_variant	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800717G>A	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.42C>T	11.37:g.74800717G>A							p.P14P	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			0	42	-			14					B9EGZ8	Silent	SNP	ENST00000305159.3	37	c.42C>T	CCDS31639.1																																																																																				0.478	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285	
KMT2A	4297	broad.mit.edu	37	11	118375649	118375649	+	Silent	SNP	A	A	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:118375649A>C	ENST00000389506.5	+	27	9033	c.9033A>C	c.(9031-9033)tcA>tcC	p.S3011S	KMT2A_ENST00000534358.1_Silent_p.S3014S|KMT2A_ENST00000354520.4_Silent_p.S2973S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3011					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTTGTGGTTCAGTAGAGCAAG	0.502																																						uc001pta.3										"""T, O"""					"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""		"""AML, ALL"""		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(9031-9033)tcA>tcC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.							140.0	110.0	120.0					11																	118375649		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375649A>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9033A>C	11.37:g.118375649A>C						MLL_uc001ptb.3_Silent_p.S3014S	p.S3011S	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	9056	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3011					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.9033A>C	CCDS31686.1																																																																																				0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KIAA1551	55196	broad.mit.edu	37	12	32137685	32137685	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:32137685A>C	ENST00000312561.4	+	4	4210	c.3796A>C	c.(3796-3798)Agc>Cgc	p.S1266R	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1266																	AAAACATAAAAGCTTACCAAG	0.348																																						uc001rks.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59						c.(3796-3798)Agc>Cgc		Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.							48.0	45.0	46.0					12																	32137685		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32137685A>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3796A>C	12.37:g.32137685A>C	ENSP00000310338:p.Ser1266Arg						p.S1266R	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		3	4210	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1266					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.3796A>C	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449952	0.26074	.	.	ENSG00000174718	ENST00000312561	T	0.13901	2.55	5.02	1.1	0.20463	.	1.710450	0.02811	N	0.124322	T	0.10937	0.0267	L	0.29908	0.895	0.09310	N	1	B	0.25441	0.126	B	0.24848	0.056	T	0.28267	-1.0049	9	.	.	.	.	4.7388	0.13003	0.6997:0.0:0.1613:0.139	.	1266	Q9HCM1	CL035_HUMAN	R	1266	ENSP00000310338:S1266R	.	S	+	1	0	C12orf35	32028952	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.123000	0.15708	0.343000	0.23821	-0.371000	0.07208	AGC		0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
LRP1	4035	broad.mit.edu	37	12	57562923	57562923	+	Splice_Site	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:57562923A>G	ENST00000243077.3	+	20	3462	c.2996A>G	c.(2995-2997)gAc>gGc	p.D999G	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	999	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACCGCCAGACAATGACTGT	0.627																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.e20-1		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						63.0	62.0	62.0					12																	57562923		2203	4300	6503	SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57562923A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2996-1A>G	12.37:g.57562923A>G						LRP1_uc009zpi.1_Splice_Site	p.D999_splice	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3462	+			999			LDL-receptor class A 6.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2996_splice	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373099	0.82573	.	.	ENSG00000123384	ENST00000243077	D	0.95756	-3.8	4.97	4.97	0.65823	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.067370	0.56097	D	0.000036	D	0.97736	0.9257	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98258	1.0497	9	.	.	.	.	13.7593	0.62956	1.0:0.0:0.0:0.0	.	999	Q07954	LRP1_HUMAN	G	999	ENSP00000243077:D999G	.	D	+	2	0	LRP1	55849190	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	9.062000	0.93920	2.096000	0.63516	0.459000	0.35465	GAC		0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Missense_Mutation
UBE3B	89910	broad.mit.edu	37	12	109921388	109921388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:109921388G>A	ENST00000342494.3	+	3	627	c.32G>A	c.(31-33)tGg>tAg	p.W11*	UBE3B_ENST00000434735.2_Nonsense_Mutation_p.W11*|UBE3B_ENST00000537063.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000536398.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000280774.5_Nonsense_Mutation_p.W11*|UBE3B_ENST00000540230.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000340074.5_Nonsense_Mutation_p.W11*	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	11					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCGAGAGCATGGTTCATCGAT	0.512																																						uc001top.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(31-33)tGg>tAg		Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.							142.0	124.0	130.0					12																	109921388		2203	4300	6503	SO:0001587	stop_gained	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109921388G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.32G>A	12.37:g.109921388G>A	ENSP00000340596:p.Trp11*					UBE3B_uc001toq.3_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.3_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.3_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.3_Nonsense_Mutation_p.W11*	p.W11*	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN			2	635	+			11					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Nonsense_Mutation	SNP	ENST00000342494.3	37	c.32G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	40	8.219588	0.98712	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000536398;ENST00000539599;ENST00000342494;ENST00000340074;ENST00000540230;ENST00000537063	.	.	.	5.36	4.39	0.52855	.	0.237415	0.43416	D	0.000574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.0701	0.14602	0.2377:0.0:0.7623:0.0	.	.	.	.	X	11	.	ENSP00000280774:W11X	W	+	2	0	UBE3B	108405771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.565000	0.73974	2.785000	0.95823	0.655000	0.94253	TGG		0.512	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
KDM2B	84678	broad.mit.edu	37	12	121880495	121880495	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:121880495C>T	ENST00000377071.4	-	19	2821	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.A285T|KDM2B_ENST00000377069.4_Missense_Mutation_p.A848T	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	917					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGGGTCCCGCGGTGGGGGAG	0.692																																						uc001uat.3																			0		p.D916N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2749-2751)Gcg>Acg		Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.							14.0	14.0	14.0					12																	121880495		1872	4081	5953	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880495C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2749G>A	12.37:g.121880495C>T	ENSP00000366271:p.Ala917Thr					KDM2B_uc010szy.2_Missense_Mutation_p.A357T|KDM2B_uc001uaq.3_Missense_Mutation_p.A357T|KDM2B_uc001uar.3_Missense_Mutation_p.A508T|KDM2B_uc001uas.3_Missense_Mutation_p.A848T|KDM2B_uc021rfd.1_Missense_Mutation_p.A848T|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.A917T|KDM2B_uc001uao.3_Missense_Mutation_p.A165T|KDM2B_uc010szx.2_Missense_Mutation_p.A165T|KDM2B_uc001uap.3_Non-coding_Transcript	p.A917T	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			18	2853	-			917					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2749G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640192	0.67244	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25912	2.07;2.38;1.77	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000014	T	0.49355	0.1552	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;P;D;P	0.67103	0.819;0.87;0.949;0.902	T	0.26087	-1.0113	10	0.48119	T	0.1	-26.0179	20.3928	0.98949	0.0:1.0:0.0:0.0	.	357;917;848;360	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	T	905;285;848;917;360;920	ENSP00000437821:A285T;ENSP00000366269:A848T;ENSP00000366271:A917T	ENSP00000261824:A920T	A	-	1	0	KDM2B	120364878	1.000000	0.71417	0.214000	0.23707	0.051000	0.14879	7.750000	0.85110	2.813000	0.96785	0.655000	0.94253	GCG		0.692	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
SACS	26278	broad.mit.edu	37	13	23942617	23942617	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr13:23942617C>A	ENST00000382292.3	-	4	542	c.269G>T	c.(268-270)gGt>gTt	p.G90V	SACS_ENST00000382298.3_Missense_Mutation_p.G90V|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	90					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGTTGTCTGACCAAATCGACC	0.393																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(268-270)gGt>gTt		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							93.0	80.0	84.0					13																	23942617		1568	3582	5150	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23942617C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.269G>T	13.37:g.23942617C>A	ENSP00000371729:p.Gly90Val					SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	p.G90V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	4	858	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	90					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.269G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334362	0.60853	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	T;T	0.77098	-1.07;-1.07	5.52	5.52	0.82312	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.88529	0.6461	M	0.87097	2.86	0.80722	D	1	P	0.47409	0.895	P	0.56514	0.8	D	0.90045	0.4145	10	0.87932	D	0	.	19.4399	0.94815	0.0:1.0:0.0:0.0	.	90	Q9NZJ4	SACS_HUMAN	V	90	ENSP00000371729:G90V;ENSP00000371735:G90V	ENSP00000371729:G90V	G	-	2	0	SACS	22840617	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.794000	0.85869	2.605000	0.88082	0.591000	0.81541	GGT		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
ATL1	51062	broad.mit.edu	37	14	51027003	51027003	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr14:51027003A>G	ENST00000358385.6	+	1	261	c.20A>G	c.(19-21)gAc>gGc	p.D7G	ATL1_ENST00000556478.2_3'UTR|ATL1_ENST00000441560.2_Missense_Mutation_p.D7G|ATL1_ENST00000357032.3_Missense_Mutation_p.D7G|ATL1_ENST00000354525.4_Missense_Mutation_p.D7G	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	7					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AACCGCAGGGACAGAAACAGT	0.632																																						uc021rsw.1																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(19-21)gAc>gGc		Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.							81.0	70.0	74.0					14																	51027003		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51027003A>G	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.20A>G	14.37:g.51027003A>G	ENSP00000351155:p.Asp7Gly					ATL1_uc001wyd.4_Missense_Mutation_p.D7G|ATL1_uc001wyf.4_Missense_Mutation_p.D7G|ATL1_uc001wye.4_Missense_Mutation_p.D7G|ATL1_uc021rsx.1_Missense_Mutation_p.D7G	p.D7G	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN			0	261	+			7					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.20A>G	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414506	0.42817	.	.	ENSG00000198513	ENST00000441560;ENST00000555960;ENST00000553509;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T;T	0.78126	-1.14;0.88;-1.15;-1.15;-1.14	5.43	4.22	0.49857	.	0.124466	0.56097	D	0.000030	T	0.75481	0.3855	N	0.19112	0.55	0.34814	D	0.738007	D;D	0.60575	0.98;0.988	D;D	0.73708	0.956;0.981	T	0.76389	-0.2977	10	0.23302	T	0.38	-12.744	8.7625	0.34683	0.8089:0.1911:0.0:0.0	.	7;7	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	G	7	ENSP00000413675:D7G;ENSP00000452506:D7G;ENSP00000351155:D7G;ENSP00000349534:D7G;ENSP00000346522:D7G	ENSP00000346522:D7G	D	+	2	0	ATL1	50096753	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.865000	0.48412	2.064000	0.61679	0.402000	0.26972	GAC		0.632	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2		
CLMN	79789	broad.mit.edu	37	14	95677204	95677204	+	Silent	SNP	C	C	T	rs139868659	byFrequency	TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr14:95677204C>T	ENST00000298912.4	-	7	734	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	207	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGTCCTGCACCGCCACGCCAT	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		16474	0.0		0.002	False		,,,				2504	0.0					uc001yef.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(619-621)gcG>gcA		Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	84.0	90.0	88.0		621	-4.2	1.0	14	dbSNP_134	88	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	CLMN	NM_024734.3		0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538		207/1003	95677204	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95677204C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.621G>A	14.37:g.95677204C>T							p.A207A	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	6	737	-			207			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.621G>A	CCDS9933.1																																																																																				0.582	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
ATP10A	57194	broad.mit.edu	37	15	25953147	25953147	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr15:25953147G>A	ENST00000356865.6	-	12	2662	c.2551C>T	c.(2551-2553)Ctg>Ttg	p.L851L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	851					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGGTCTCCAGGCGAATGGCA	0.537																																						uc010ayu.3																			0		p.R850C(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2551-2553)Ctg>Ttg		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.							74.0	65.0	68.0					15																	25953147		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953147G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2551C>T	15.37:g.25953147G>A							p.L851L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2657	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	851					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2551C>T	CCDS32178.1																																																																																				0.537	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
SERINC4	619189	broad.mit.edu	37	15	44090144	44090144	+	Silent	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr15:44090144A>G	ENST00000319327.6	-	5	840	c.606T>C	c.(604-606)gcT>gcC	p.A202A	HYPK_ENST00000458412.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000299969.6_Silent_p.A202A|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000600633.1_5'Flank|HYPK_ENST00000406925.1_5'UTR|HYPK_ENST00000442995.2_5'Flank|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Silent_p.A81A|SERINC4_ENST00000249714.3_Missense_Mutation_p.L29P	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	202					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		AATGGGCAAAAGCTGTAATAA	0.463											OREG0003944	type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001zte.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(85-87)cTt>cCt		Homo sapiens serine incorporator 4 (SERINC4), mRNA.							86.0	87.0	87.0					15																	44090144		2198	4298	6496	SO:0001819	synonymous_variant	619189				phospholipid biosynthetic process	integral to membrane		g.chr15:44090144A>G	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.606T>C	15.37:g.44090144A>G			OREG0003944	type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	921	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.3_Intron|SERINC4_uc001ztc.1_Non-coding_Transcript|SERINC4_uc010bds.1_Missense_Mutation_p.L29P|C15orf63_uc001ztf.3_5'Flank|C15orf63_uc021skf.1_5'Flank|C15orf63_uc001ztg.1_5'Flank	p.L29P	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	4	718	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	272					B2RN41|Q3YL75	Missense_Mutation	SNP	ENST00000319327.6	37	c.86T>C	CCDS58360.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496472	0.44352	.	.	ENSG00000184716	ENST00000249714	T	0.51817	0.69	5.72	0.525	0.17072	.	.	.	.	.	T	0.32823	0.0842	L	0.39397	1.21	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08848	-1.0702	9	0.45353	T	0.12	-14.9976	4.7353	0.12984	0.3625:0.0:0.5012:0.1363	.	29	A6NH21-2	.	P	29	ENSP00000249714:L29P	ENSP00000249714:L29P	L	-	2	0	SERINC4	41877436	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	0.930000	0.28858	0.053000	0.16036	-0.366000	0.07423	CTT		0.463	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2		
GRIN2A	2903	broad.mit.edu	37	16	9857047	9857047	+	Missense_Mutation	SNP	G	G	A	rs568622613		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:9857047G>A	ENST00000396573.2	-	14	4663	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1452C|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1452C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1452					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGTACACGCGTCTATTGCTG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		21745	0.0		0.0	False		,,,				2504	0.001					uc010uym.2																			0		p.R1452H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4354-4356)Cgc>Tgc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						62.0	66.0	64.0					16																	9857047		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857047G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4354C>T	16.37:g.9857047G>A	ENSP00000379818:p.Arg1452Cys					GRIN2A_uc002czo.4_Missense_Mutation_p.R1452C|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	p.R1452C	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	4664	-			1452					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4354C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964230	0.74131	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.15487	2.42;2.42;2.42	5.79	5.79	0.91817	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.16453	-1.0402	9	.	.	.	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	1452	Q12879	NMDE1_HUMAN	C	1452	ENSP00000379818:R1452C;ENSP00000332549:R1452C;ENSP00000379820:R1452C	.	R	-	1	0	GRIN2A	9764548	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	6.299000	0.72770	2.733000	0.93635	0.655000	0.94253	CGC		0.363	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GRIN2A	2903	broad.mit.edu	37	16	9934645	9934645	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:9934645G>A	ENST00000396573.2	-	8	1819	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R504W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R504W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R347W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R504W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R504W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	504			R -> W (in FESD). {ECO:0000269|PubMed:23933820}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGACTGCCCGTTGATAGACC	0.453																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1510-1512)Cgg>Tgg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						77.0	61.0	66.0					16																	9934645		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934645G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1510C>T	16.37:g.9934645G>A	ENSP00000379818:p.Arg504Trp					GRIN2A_uc002czo.4_Missense_Mutation_p.R504W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R347W|GRIN2A_uc002czr.4_Missense_Mutation_p.R504W	p.R504W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			7	1820	-			504					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1510C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824031	0.50739	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.3	4.33	0.51752	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.126603	0.53938	D	0.000051	T	0.73249	0.3563	M	0.85099	2.735	0.48571	D	0.999677	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.67725	0.871;0.953;0.935	T	0.77598	-0.2528	9	.	.	.	.	14.3421	0.66633	0.0:0.0:0.8509:0.1491	.	347;504;504	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	504;504;347;504;504	ENSP00000379818:R504W;ENSP00000385872:R504W;ENSP00000441572:R347W;ENSP00000332549:R504W;ENSP00000379820:R504W	.	R	-	1	2	GRIN2A	9842146	0.997000	0.39634	0.547000	0.28179	0.331000	0.28603	2.593000	0.46180	1.203000	0.43233	0.655000	0.94253	CGG		0.453	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
CDH15	1013	broad.mit.edu	37	16	89261354	89261354	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:89261354G>A	ENST00000289746.2	+	14	2301	c.2236G>A	c.(2236-2238)Gcg>Acg	p.A746T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	746					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGGCTCGGTGGCGGGGACGCT	0.637																																						uc002fmt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2236-2238)Gcg>Acg		Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.							27.0	25.0	26.0					16																	89261354		2179	4283	6462	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261354G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2236G>A	16.37:g.89261354G>A	ENSP00000289746:p.Ala746Thr						p.A746T	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	13	2313	+			746						Missense_Mutation	SNP	ENST00000289746.2	37	c.2236G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607289	0.66558	.	.	ENSG00000129910	ENST00000289746	D	0.82255	-1.59	4.93	4.93	0.64822	Cadherin, cytoplasmic domain (1);	0.000000	0.51477	D	0.000082	D	0.91533	0.7326	M	0.83774	2.66	0.44908	D	0.997928	D	0.89917	1.0	D	0.77557	0.99	D	0.92933	0.6365	10	0.87932	D	0	.	16.9044	0.86122	0.0:0.0:1.0:0.0	.	746	P55291	CAD15_HUMAN	T	746	ENSP00000289746:A746T	ENSP00000289746:A746T	A	+	1	0	CDH15	87788855	1.000000	0.71417	0.677000	0.29947	0.007000	0.05969	5.175000	0.65021	2.279000	0.76181	0.561000	0.74099	GCG		0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
PFAS	5198	broad.mit.edu	37	17	8158344	8158344	+	Splice_Site	SNP	G	G	A	rs547312647		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:8158344G>A	ENST00000314666.6	+	4	411		c.e4-1		PFAS_ENST00000545834.1_Splice_Site	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCATTGTTCAGGCTGAACTTC	0.632																																						uc002gkr.3																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.e4-1		Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						101.0	68.0	79.0					17																	8158344		2203	4300	6503	SO:0001630	splice_region_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8158344G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.279-1G>A	17.37:g.8158344G>A						PFAS_uc010vuv.2_Splice_Site	p.R93_splice	NM_012393	NP_036525	O15067	PUR4_HUMAN			4	420	+			93					A6H8V8	Splice_Site	SNP	ENST00000314666.6	37	c.279_splice	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873345	0.51695	.	.	ENSG00000178921	ENST00000314666	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.585	0.84725	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFAS	8099069	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	8.690000	0.91272	2.571000	0.86741	0.561000	0.74099	.		0.632	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2		Intron
NTN1	9423	broad.mit.edu	37	17	9066204	9066204	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:9066204G>A	ENST00000173229.2	+	3	1200	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	NTN1_ENST00000546090.1_Missense_Mutation_p.G365R|NTN1_ENST00000538852.1_Missense_Mutation_p.G365R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	365	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GCGCAAGAGCGGAGGTGTCTG	0.627																																						uc002glw.4																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1093-1095)Gga>Aga		Homo sapiens netrin 1 (NTN1), mRNA.							42.0	37.0	38.0					17																	9066204		2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9066204G>A	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1093G>A	17.37:g.9066204G>A	ENSP00000173229:p.Gly365Arg						p.G365R	NM_004822	NP_004813	O95631	NET1_HUMAN			2	1200	+			365			Laminin EGF-like 2.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1093G>A	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892235	0.91889	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.61510	0.1;0.1;0.1	4.62	4.62	0.57501	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.84338	0.5450	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90352	0.4367	10	0.87932	D	0	.	17.8203	0.88648	0.0:0.0:1.0:0.0	.	365	O95631	NET1_HUMAN	R	365	ENSP00000173229:G365R;ENSP00000443259:G365R;ENSP00000441611:G365R	ENSP00000173229:G365R	G	+	1	0	NTN1	9006929	1.000000	0.71417	0.988000	0.46212	0.874000	0.50279	9.324000	0.96373	2.293000	0.77203	0.650000	0.86243	GGA		0.627	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1		
DGKE	8526	broad.mit.edu	37	17	54925329	54925329	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:54925329G>T	ENST00000284061.3	+	5	971	c.791G>T	c.(790-792)tGt>tTt	p.C264F		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	264	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CTACAACTCTGTACTCTTCTC	0.388																																						uc002iur.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(790-792)tGt>tTt		Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.							104.0	104.0	104.0					17																	54925329		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54925329G>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.791G>T	17.37:g.54925329G>T	ENSP00000284061:p.Cys264Phe					DGKE_uc002ius.1_Missense_Mutation_p.C264F	p.C264F	NM_003647	NP_003638	P52429	DGKE_HUMAN			4	971	+	Breast(9;3.59e-07)		264			DAGKc.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.791G>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599331	0.87055	.	.	ENSG00000153933	ENST00000284061	T	0.20881	2.04	5.57	5.57	0.84162	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	N	0.15975	0.35	0.80722	D	1	B;B	0.24963	0.115;0.115	B;B	0.28139	0.086;0.086	T	0.05146	-1.0903	10	0.02654	T	1	.	19.543	0.95281	0.0:0.0:1.0:0.0	.	264;264	A1L4Q0;P52429	.;DGKE_HUMAN	F	264	ENSP00000284061:C264F	ENSP00000284061:C264F	C	+	2	0	DGKE	52280328	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	9.144000	0.94629	2.601000	0.87937	0.591000	0.81541	TGT		0.388	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647	
MIDN	90007	broad.mit.edu	37	19	1257138	1257138	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:1257138G>A	ENST00000591446.2	+	7	1683	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D	MIDN_ENST00000300952.2_Missense_Mutation_p.G425D|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	425						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		CGCAAGGCCGGCCGCAGCGAC	0.697																																						uc002lrp.3																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1273-1275)gGc>gAc		Homo sapiens midnolin (MIDN), mRNA.							18.0	23.0	21.0					19																	1257138		2198	4289	6487	SO:0001583	missense	90007					nucleolus		g.chr19:1257138G>A	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1274G>A	19.37:g.1257138G>A	ENSP00000467679:p.Gly425Asp						p.G425D	NM_177401	NP_796375	Q504T8	MIDN_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)	7	1789	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	425					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.1274G>A	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	g	18.83	3.707894	0.68615	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.44	3.44	0.39384	.	0.204912	0.41500	U	0.000864	T	0.63896	0.2550	L	0.47716	1.5	0.46823	D	0.999216	D	0.69078	0.997	P	0.61397	0.888	T	0.60791	-0.7193	9	0.25751	T	0.34	-17.5712	13.6033	0.62033	0.0:0.0:1.0:0.0	.	425	Q504T8	MIDN_HUMAN	D	425	.	ENSP00000300952:G425D	G	+	2	0	MIDN	1208138	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	6.478000	0.73596	1.756000	0.51951	0.486000	0.48141	GGC		0.697	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2		
FUT3	2525	broad.mit.edu	37	19	5844200	5844200	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:5844200G>A	ENST00000303225.6	-	3	1285	c.651C>T	c.(649-651)ctC>ctT	p.L217L	FUT3_ENST00000458379.2_Silent_p.L217L|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Silent_p.L217L|FUT3_ENST00000589918.1_Silent_p.L217L	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	217					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGTCCACCTTGAGATGAGCCT	0.622																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(649-651)ctC>ctT		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.							55.0	53.0	53.0					19																	5844200		2202	4300	6502	SO:0001819	synonymous_variant	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844200G>A		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.651C>T	19.37:g.5844200G>A						FUT3_uc002mdm.2_Silent_p.L217L|FUT3_uc002mdj.2_Silent_p.L217L|FUT3_uc002mdl.2_Silent_p.L217L|FUT3_uc021unn.1_Silent_p.L217L	p.L217L	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			1	748	-			217					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	ENST00000303225.6	37	c.651C>T	CCDS12153.1																																																																																				0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149	
RAB11B	9230	broad.mit.edu	37	19	8464851	8464851	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:8464851G>T	ENST00000328024.6	+	2	363	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	RAB11B_ENST00000594216.1_Missense_Mutation_p.A49S|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	49					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						CGTGGAGTTCGCCACCCGCAG	0.652																																						uc002mju.4																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(145-147)Gcc>Tcc		Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.							84.0	72.0	76.0					19																	8464851		2203	4300	6503	SO:0001583	missense	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8464851G>T	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.145G>T	19.37:g.8464851G>T	ENSP00000333547:p.Ala49Ser					RAB11B_uc021uof.1_5'Flank	p.A49S	NM_004218	NP_004209	Q15907	RB11B_HUMAN			1	241	+			49					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	c.145G>T	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324787	0.95708	.	.	ENSG00000185236	ENST00000328024	T	0.79653	-1.29	4.23	4.23	0.50019	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83308	0.5226	L	0.28556	0.865	0.80722	D	1	P;P	0.47604	0.852;0.898	D;P	0.64237	0.923;0.882	D	0.85739	0.1336	10	0.87932	D	0	.	15.6927	0.77466	0.0:0.0:1.0:0.0	.	49;49	B4DMK0;Q15907	.;RB11B_HUMAN	S	49	ENSP00000333547:A49S	ENSP00000333547:A49S	A	+	1	0	RAB11B	8370851	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.657000	0.98554	2.341000	0.79615	0.462000	0.41574	GCC		0.652	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218	
MUC16	94025	broad.mit.edu	37	19	9069909	9069909	+	Missense_Mutation	SNP	C	C	A	rs373641303		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9069909C>A	ENST00000397910.4	-	3	17740	c.17537G>T	c.(17536-17538)aGg>aTg	p.R5846M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5848	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGAGAGCCTGGTGATGGT	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17536-17538)aGg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		C	MET/ARG	0,3880		0,0,1940	207.0	195.0	199.0		17537	-2.1	0.0	19		199	2,8234		0,2,4116	no	missense	MUC16	NM_024690.2	91	0,2,6056	AA,AC,CC		0.0243,0.0,0.0165	benign	5846/14508	9069909	2,12114	1940	4118	6058	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069909C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17537G>T	19.37:g.9069909C>A	ENSP00000381008:p.Arg5846Met						p.R5846M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	17741	-			5848			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17537G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.566	-0.300766	0.05495	0.0	2.43E-4	ENSG00000181143	ENST00000397910	T	0.02974	4.09	1.76	-2.09	0.07232	.	.	.	.	.	T	0.02012	0.0063	L	0.27053	0.805	.	.	.	B	0.20671	0.047	B	0.11329	0.006	T	0.45991	-0.9223	8	0.87932	D	0	.	2.0116	0.03489	0.2591:0.3844:0.0:0.3565	.	5846	B5ME49	.	M	5846	ENSP00000381008:R5846M	ENSP00000381008:R5846M	R	-	2	0	MUC16	8930909	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.228000	0.09114	-0.441000	0.07201	0.306000	0.20318	AGG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
FBXL12	54850	broad.mit.edu	37	19	9929295	9929296	+	Splice_Site	INS	-	-	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9929295_9929296insG	ENST00000247977.4	-	2	328		c.e2-2		AC008752.1_ENST00000401283.1_RNA|SNORA70_ENST00000363367.1_RNA|FBXL12_ENST00000586651.1_Frame_Shift_Ins_p.P65fs|FBXL12_ENST00000592067.1_Splice_Site|FBXL12_ENST00000589626.1_Splice_Site|FBXL12_ENST00000586469.1_Intron|FBXL12_ENST00000586073.1_Splice_Site|FBXL12_ENST00000585379.1_Splice_Site|FBXL12_ENST00000588922.1_Splice_Site	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TGACAGACCCTGGGGGAGGGGA	0.723																																						uc002mme.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.e2-1		Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.				1,4097		0,1,2048						4.4	1.0			9	6,7974		0,6,3984	no	splice-3	FBXL12	NM_017703.1		0,7,6032	A1A1,A1R,RR		0.0752,0.0244,0.058				7,12071				SO:0001630	splice_region_variant	54850						protein binding	g.chr19:9929295_9929296insG	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.87-2->C	19.37:g.9929300_9929300dupG						FBXL12_uc002mmd.3_5'UTR|FBXL12_uc002mmf.3_Splice_Site|FBXL12_uc002mmg.3_Splice_Site	p.R29_splice	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			2	329	-			29			F-box.		B3KSJ8|Q9H5K4	Splice_Site	INS	ENST00000247977.4	37	c.87_splice	CCDS12218.1																																																																																				0.723	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703	Intron
CCDC85A	114800	broad.mit.edu	37	2	56603032	56603032	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:56603032C>T	ENST00000407595.2	+	5	2036	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	512								p.P512A(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATGCCACACCTTCCCAGCA	0.473																																						uc002rzn.3																			1	Substitution - Missense(1)	p.P512A(2)	lung(1)	breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1534-1536)Cct>Tct		Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.							92.0	92.0	92.0					2																	56603032		2026	4185	6211	SO:0001583	missense	114800							g.chr2:56603032C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1534C>T	2.37:g.56603032C>T	ENSP00000384040:p.Pro512Ser					CCDC85A_uc021vhw.1_Intron	p.P512S	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	2036	+			512						Missense_Mutation	SNP	ENST00000407595.2	37	c.1534C>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897141	0.33535	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.15	5.15	0.70609	.	0.218069	0.30419	N	0.009670	T	0.26484	0.0647	N	0.08118	0	0.34418	D	0.697152	P	0.39809	0.689	B	0.36378	0.223	T	0.35500	-0.9786	9	0.22706	T	0.39	-19.4023	13.7803	0.63079	0.0:0.8343:0.1657:0.0	.	512	Q96PX6	CC85A_HUMAN	S	512;101	.	ENSP00000384040:P512S	P	+	1	0	CCDC85A	56456536	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.366000	0.44204	2.673000	0.90976	0.467000	0.42956	CCT		0.473	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1		
POLR1B	84172	broad.mit.edu	37	2	113315616	113315616	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:113315616T>C	ENST00000263331.5	+	8	1868	c.1288T>C	c.(1288-1290)Ttt>Ctt	p.F430L	POLR1B_ENST00000537335.1_Missense_Mutation_p.F219L|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.F468L|POLR1B_ENST00000417433.2_Missense_Mutation_p.F374L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	430					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TACAAAACCATTTGAATACCT	0.328																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1288-1290)Ttt>Ctt		Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.							87.0	90.0	89.0					2																	113315616		2202	4300	6502	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113315616T>C	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1288T>C	2.37:g.113315616T>C	ENSP00000263331:p.Phe430Leu					POLR1B_uc010fkn.2_Missense_Mutation_p.F374L|POLR1B_uc002thx.2_Missense_Mutation_p.F291L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.F291L|POLR1B_uc010yxo.1_Missense_Mutation_p.F207L	p.F430L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			7	1868	+			430					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.1288T>C	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	T	9.841	1.191138	0.21954	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	6.04	6.04	0.98038	.	0.043858	0.85682	D	0.000000	T	0.52208	0.1720	N	0.16567	0.415	0.58432	D	0.999996	B;B;B	0.12013	0.004;0.002;0.005	B;B;B	0.15052	0.007;0.002;0.012	T	0.51450	-0.8704	10	0.02654	T	1	-27.8834	15.5589	0.76223	0.0:0.0:0.0:1.0	.	468;374;430	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	L	430;468;219;374	ENSP00000263331:F430L;ENSP00000444136:F468L;ENSP00000437914:F219L;ENSP00000405358:F374L	ENSP00000263331:F430L	F	+	1	0	POLR1B	113032087	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.335000	0.79234	2.317000	0.78254	0.459000	0.35465	TTT		0.328	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	
TTN	7273	broad.mit.edu	37	2	179410767	179410767	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:179410767C>T	ENST00000591111.1	-	293	90497	c.90273G>A	c.(90271-90273)ccG>ccA	p.P30091P	TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P29164P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.P22667P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.P22859P|TTN_ENST00000589042.1_Silent_p.P31732P|TTN_ENST00000359218.5_Silent_p.P22792P			Q8WZ42	TITIN_HUMAN	titin	30091	Fibronectin type-III 119. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTCTTCCTGCGGAAGGCTCC	0.527																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(87490-87492)ccG>ccA		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							75.0	73.0	73.0					2																	179410767		2006	4170	6176	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410767C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90273G>A	2.37:g.179410767C>T						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P22859P|TTN_uc021vta.1_Silent_p.P22792P|TTN_uc021vtb.1_Silent_p.P22667P	p.P29164P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	87717	-			30091			Fibronectin type-III 112.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.87492G>A																																																																																					0.527	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CRYGC	1420	broad.mit.edu	37	2	208993026	208993026	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:208993026C>T	ENST00000282141.3	-	3	463	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	142	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCAGGTATTGCCGCCCCCGGT	0.622																																						uc002vco.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(424-426)cgG>cgA		Homo sapiens crystallin, gamma C (CRYGC), mRNA.							55.0	58.0	57.0					2																	208993026		2203	4300	6503	SO:0001819	synonymous_variant	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208993026C>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.426G>A	2.37:g.208993026C>T						LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	p.R142R	NM_020989	NP_066269	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	464	-			142			Beta/gamma crystallin 'Greek key' 4.		Q53R50	Silent	SNP	ENST00000282141.3	37	c.426G>A	CCDS2379.1																																																																																				0.622	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989	
PNKD	25953	broad.mit.edu	37	2	219206751	219206751	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:219206751G>A	ENST00000273077.4	+	7	716	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	PNKD_ENST00000258362.3_Missense_Mutation_p.R198Q|PNKD_ENST00000436005.2_Missense_Mutation_p.R162Q|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	222					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAGATCCGGGCCCTGGCT	0.597																																						uc002vhn.3																			0		p.I221M(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(664-666)cGg>cAg		Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							121.0	103.0	109.0					2																	219206751		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219206751G>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.665G>A	2.37:g.219206751G>A	ENSP00000273077:p.Arg222Gln					PNKD_uc002vhq.3_Missense_Mutation_p.R198Q	p.R222Q	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	809	+		Renal(207;0.0474)	222					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.665G>A	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759545	0.49468	.	.	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	D;D;D	0.95756	-3.8;-3.8;-3.8	4.76	0.6	0.17524	Beta-lactamase-like (2);	0.729004	0.13646	N	0.372675	D	0.87358	0.6157	N	0.11892	0.195	0.27500	N	0.952022	B;B	0.18968	0.026;0.032	B;B	0.12156	0.002;0.007	T	0.77827	-0.2443	10	0.33141	T	0.24	-5.1194	6.8194	0.23849	0.6202:0.0:0.3798:0.0	.	198;222	Q8N490-3;Q8N490	.;PNKD_HUMAN	Q	222;198;162	ENSP00000273077:R222Q;ENSP00000258362:R198Q;ENSP00000414400:R162Q	ENSP00000258362:R198Q	R	+	2	0	PNKD	218914995	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	0.706000	0.25690	0.220000	0.20860	0.556000	0.70494	CGG		0.597	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2		
MATN4	8785	broad.mit.edu	37	20	43933304	43933304	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr20:43933304G>A	ENST00000372754.1	-	2	215	c.207C>T	c.(205-207)aaC>aaT	p.N69N	MATN4_ENST00000353917.5_Silent_p.N69N|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000372756.1_Silent_p.N69N|MATN4_ENST00000342716.4_Silent_p.N69N|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.6_Silent_p.N69N|MATN4_ENST00000537548.1_Silent_p.N69N|RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank			O95460	MATN4_HUMAN	matrilin 4	69	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.N69fs*3(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGCGCGTGGCGTTGGGACCCA	0.642																																						uc002xnn.2																			1	Deletion - Frameshift(1)	p.N69fs*3(2)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(205-207)aaC>aaT		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							36.0	34.0	35.0					20																	43933304		2202	4298	6500	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43933304G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.207C>T	20.37:g.43933304G>A						MATN4_uc002xnp.2_Silent_p.N69N|MATN4_uc002xno.2_Silent_p.N69N|MATN4_uc010zwr.1_Silent_p.N17N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	p.N69N	NM_003833	NP_003824	O95460	MATN4_HUMAN			2	394	-		Myeloproliferative disorder(115;0.0122)	69			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.207C>T																																																																																					0.642	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
LAMA5	3911	broad.mit.edu	37	20	60897158	60897158	+	Missense_Mutation	SNP	C	C	T	rs143066016	byFrequency	TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr20:60897158C>T	ENST00000252999.3	-	48	6479	c.6413G>A	c.(6412-6414)aGc>aAc	p.S2138N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2138	Laminin EGF-like 22. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCGCTCCCCGCTGAGCCCCGG	0.701																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6412-6414)aGc>aAc		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						20.0	21.0	21.0					20																	60897158		2182	4281	6463	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60897158C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6413G>A	20.37:g.60897158C>T	ENSP00000252999:p.Ser2138Asn					LAMA5_uc021wfw.1_Missense_Mutation_p.S2138N	p.S2138N	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		47	6480	-	Breast(26;1.57e-08)		2138			Laminin EGF-like 22.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6413G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	12.16	1.855386	0.32791	.	.	ENSG00000130702	ENST00000252999	T	0.31510	1.49	4.81	2.78	0.32641	EGF-like, laminin (2);EGF-like region, conserved site (1);	0.120859	0.52532	U	0.000064	T	0.24236	0.0587	L	0.46947	1.48	0.80722	D	1	B	0.33413	0.411	B	0.34536	0.185	T	0.04678	-1.0934	10	0.46703	T	0.11	.	6.3329	0.21281	0.0:0.5329:0.367:0.1001	.	2138	O15230	LAMA5_HUMAN	N	2138	ENSP00000252999:S2138N	ENSP00000252999:S2138N	S	-	2	0	LAMA5	60330553	0.999000	0.42202	0.460000	0.27093	0.016000	0.09150	4.341000	0.59335	0.960000	0.38005	0.485000	0.47835	AGC		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
SGOL1	151648	broad.mit.edu	37	3	20225255	20225255	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:20225255T>C	ENST00000263753.4	-	3	323	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	SGOL1_ENST00000429446.3_Missense_Mutation_p.K62E|SGOL1_ENST00000419233.2_Missense_Mutation_p.K62E|SGOL1_ENST00000442720.1_Missense_Mutation_p.K62E|SGOL1_ENST00000421451.1_Missense_Mutation_p.K62E|SGOL1_ENST00000443724.1_Missense_Mutation_p.K62E|SGOL1_ENST00000425061.1_Missense_Mutation_p.K62E|SGOL1_ENST00000412868.1_Missense_Mutation_p.K62E|SGOL1_ENST00000437051.1_Missense_Mutation_p.K62E|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Missense_Mutation_p.K62E|SGOL1_ENST00000417364.1_Missense_Mutation_p.K62E|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Missense_Mutation_p.K62E|SGOL1_ENST00000306698.2_Missense_Mutation_p.K62E|SGOL1_ENST00000412997.1_Missense_Mutation_p.K62E	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	62	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTAACATTTTGTTGTTGTCT	0.294																																						uc003cbu.3																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(184-186)Aaa>Gaa		Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.							106.0	102.0	103.0					3																	20225255		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20225255T>C	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.184A>G	3.37:g.20225255T>C	ENSP00000263753:p.Lys62Glu					SGOL1_uc003cbw.3_Missense_Mutation_p.K62E|SGOL1_uc003cbv.3_Missense_Mutation_p.K62E|SGOL1_uc003cbt.3_Missense_Mutation_p.K62E|SGOL1_uc010hfa.3_Missense_Mutation_p.K62E|SGOL1_uc003cbs.3_Missense_Mutation_p.K62E|SGOL1_uc003cbr.3_Missense_Mutation_p.K62E|SGOL1_uc003ccc.3_Missense_Mutation_p.K62E|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Missense_Mutation_p.K62E|SGOL1_uc003cca.3_Missense_Mutation_p.K62E|SGOL1_uc003cby.3_Missense_Mutation_p.K62E|SGOL1_uc003cbx.3_Missense_Mutation_p.K62E|SGOL1_uc003cbz.3_Missense_Mutation_p.K62E	p.K62E	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN			2	339	-			62			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.184A>G	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943381	0.53079	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.55234	0.53;3.03;0.6;0.53;0.6;3.03;1.13;0.54;1.13;0.54	5.13	5.13	0.70059	Shugoshin, N-terminal (1);	0.411838	0.30201	N	0.010163	T	0.49321	0.1550	N	0.19112	0.55	0.31397	N	0.67715	B;P;B;D;B;P;B	0.62365	0.372;0.801;0.152;0.991;0.372;0.801;0.241	B;B;B;P;B;B;B	0.54026	0.121;0.192;0.085;0.74;0.085;0.192;0.085	T	0.58929	-0.7549	10	0.72032	D	0.01	.	11.854	0.52427	0.0:0.0:0.146:0.854	.	62;62;62;62;62;62;62	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	E	62	ENSP00000394625:K62E;ENSP00000263753:K62E;ENSP00000373284:K62E;ENSP00000414960:K62E;ENSP00000413070:K62E;ENSP00000414129:K62E;ENSP00000410458:K62E;ENSP00000389034:K62E;ENSP00000406880:K62E;ENSP00000394613:K62E	ENSP00000263753:K62E	K	-	1	0	SGOL1	20200259	0.997000	0.39634	0.999000	0.59377	0.990000	0.78478	1.950000	0.40323	2.054000	0.61138	0.533000	0.62120	AAA		0.294	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484	
MAPKAPK3	7867	broad.mit.edu	37	3	50655078	50655078	+	Missense_Mutation	SNP	C	C	T	rs375412266		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:50655078C>T	ENST00000446044.1	+	4	678	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.P28S	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	28			P -> S (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGGCGGTGCTCCGGGGGGGCG	0.697																																						uc003day.2																			0		p.P28S(1)		central_nervous_system(1)|ovary(1)	2						c.(82-84)Ccg>Tcg		Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.							37.0	49.0	45.0					3																	50655078		2202	4300	6502	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50655078C>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.82C>T	3.37:g.50655078C>T	ENSP00000396467:p.Pro28Ser					MAPKAPK3_uc003daz.2_Missense_Mutation_p.P28S|MAPKAPK3_uc003dba.2_Missense_Mutation_p.P28S|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.P28S	p.P28S	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	3	724	+			28		P -> S (in a glioblastoma multiforme sample; somatic mutation).			B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.82C>T	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542754	0.45280	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955;ENST00000457064	T;T;T;T	0.66099	-0.19;-0.18;-0.19;1.03	5.15	1.71	0.24356	Protein kinase-like domain (1);	0.281073	0.34555	N	0.003862	T	0.30885	0.0779	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.14578	0.011	T	0.27365	-1.0076	10	0.02654	T	1	-5.3699	7.0732	0.25189	0.4172:0.4279:0.1549:0.0	.	28	Q16644	MAPK3_HUMAN	S	28	ENSP00000396467:P28S;ENSP00000410970:P28S;ENSP00000350639:P28S;ENSP00000402045:P28S	ENSP00000350639:P28S	P	+	1	0	MAPKAPK3	50630082	0.002000	0.14202	0.001000	0.08648	0.112000	0.19704	0.741000	0.26202	0.622000	0.30249	0.561000	0.74099	CCG		0.697	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635	
CASR	846	broad.mit.edu	37	3	122003457	122003457	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:122003457C>T	ENST00000490131.1	+	7	3028	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	CASR_ENST00000498619.1_Missense_Mutation_p.R896W|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.R886W	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	886	Interaction with RNF19A.		R -> W (in HHC1). {ECO:0000269|PubMed:17698911}.		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)	GGTGGCTGCCCGGGCCACGCT	0.612																																						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	GRCh37	CM076072	CASR	M		c.(2686-2688)Cgg>Tgg		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						32.0	33.0	33.0					3																	122003457		2203	4300	6503	SO:0001583	missense	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.chr3:122003457C>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.2656C>T	3.37:g.122003457C>T	ENSP00000418685:p.Arg886Trp					CASR_uc003eev.4_Missense_Mutation_p.R886W	p.R896W	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	3124	+			886			Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2686C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89746	-2.56;-2.56;-2.56	5.89	5.0	0.66597	.	0.053112	0.64402	D	0.000001	D	0.89332	0.6685	L	0.27053	0.805	0.47065	D	0.999302	D;D	0.89917	1.0;1.0	D;P	0.63283	0.913;0.857	D	0.90442	0.4432	10	0.87932	D	0	.	12.7126	0.57098	0.4154:0.5846:0.0:0.0	.	896;886	E7ENE0;P41180	.;CASR_HUMAN	W	886;896;886	ENSP00000418685:R886W;ENSP00000420194:R896W;ENSP00000296154:R886W	ENSP00000296154:R886W	R	+	1	2	CASR	123486147	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.186000	0.58337	1.456000	0.47831	0.561000	0.74099	CGG		0.612	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
GHSR	2693	broad.mit.edu	37	3	172165482	172165482	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:172165482C>T	ENST00000241256.2	-	1	764	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	GHSR_ENST00000427970.1_Missense_Mutation_p.R241Q	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	241					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCGCCTCCTCCGCCACAGCTT	0.602																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(721-723)cGg>cAg		Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.							56.0	51.0	52.0					3																	172165482		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165482C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.722G>A	3.37:g.172165482C>T	ENSP00000241256:p.Arg241Gln					GHSR_uc011bpv.2_Missense_Mutation_p.R241Q	p.R241Q	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	765	-	Ovarian(172;0.00143)|Breast(254;0.197)		241					Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.722G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840840	0.51057	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.41400	1.0;1.0	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.174525	0.48286	D	0.000181	T	0.40347	0.1113	L	0.53617	1.68	0.37268	D	0.907263	P;P	0.43412	0.8;0.806	B;B	0.35859	0.212;0.148	T	0.48854	-0.8998	10	0.40728	T	0.16	-19.4572	19.4276	0.94749	0.0:1.0:0.0:0.0	.	241;241	Q92847-2;Q92847	.;GHSR_HUMAN	Q	241	ENSP00000241256:R241Q;ENSP00000395344:R241Q	ENSP00000241256:R241Q	R	-	2	0	GHSR	173648176	0.997000	0.39634	0.980000	0.43619	0.975000	0.68041	1.598000	0.36740	2.601000	0.87937	0.455000	0.32223	CGG		0.602	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
WDFY3	23001	broad.mit.edu	37	4	85634313	85634313	+	Splice_Site	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr4:85634313C>T	ENST00000295888.4	-	51	8448	c.8041G>A	c.(8041-8043)Gga>Aga	p.G2681R	WDFY3_ENST00000322366.6_Splice_Site_p.G2664R	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2681	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCACCTACCCCTGCTCCACA	0.398																																						uc003hpd.3																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e51+1		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							217.0	202.0	207.0					4																	85634313		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85634313C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8042+1G>A	4.37:g.85634313C>T						WDFY3_uc003hpe.1_Splice_Site_p.G292_splice	p.G2681_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	51	8450	-		Hepatocellular(203;0.114)	2681					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8042_splice	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059660	0.93846	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.67523	-0.27;-0.27;-0.17	5.28	5.28	0.74379	BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	P	0.56434	0.798	T	0.64939	-0.6289	10	0.22706	T	0.39	.	19.2864	0.94072	0.0:1.0:0.0:0.0	.	2681	Q8IZQ1	WDFY3_HUMAN	R	2664;2681;284	ENSP00000318466:G2664R;ENSP00000295888:G2681R;ENSP00000424987:G284R	ENSP00000295888:G2681R	G	-	1	0	WDFY3	85853337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.265000	0.78442	2.641000	0.89580	0.563000	0.77884	GGA		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Missense_Mutation
SLCO6A1	133482	broad.mit.edu	37	5	101834365	101834365	+	Missense_Mutation	SNP	C	C	T	rs144293843		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr5:101834365C>T	ENST00000506729.1	-	1	355	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G62S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G62S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G62S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G62S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGGAAACCGCCGAACCTTATC	0.537																																						uc003knn.3																			0		p.G62A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(184-186)Ggc>Agc		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							151.0	166.0	161.0					5																	101834365		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834365C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.184G>A	5.37:g.101834365C>T	ENSP00000421339:p.Gly62Ser					SLCO6A1_uc003kno.3_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.3_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.3_Missense_Mutation_p.G62S	p.G62S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	0	356	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	62					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.184G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463618	0.26248	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.43294	1.01;1.01;1.02;0.95;0.95	3.38	-3.59	0.04583	.	7.138780	0.00166	N	0.000007	T	0.26810	0.0656	L	0.27053	0.805	0.09310	N	1	D;D;P	0.56968	0.978;0.962;0.926	B;B;B	0.43103	0.408;0.231;0.139	T	0.29549	-1.0008	10	0.09084	T	0.74	.	6.1497	0.20304	0.0:0.1962:0.5205:0.2834	.	62;62;62	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	62	ENSP00000421339:G62S;ENSP00000369135:G62S;ENSP00000373671:G62S;ENSP00000421990:G62S;ENSP00000369138:G62S	ENSP00000369135:G62S	G	-	1	0	SLCO6A1	101862264	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.192000	0.01245	-0.800000	0.04433	0.484000	0.47621	GGC		0.537	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
TFAP2B	7021	broad.mit.edu	37	6	50791291	50791291	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr6:50791291C>T	ENST00000393655.3	+	2	422	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Missense_Mutation_p.P94S	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	85	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAGCCAGGACCCCTACTCCCA	0.682																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(253-255)Ccc>Tcc		Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.							64.0	70.0	68.0					6																	50791291		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791291C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.253C>T	6.37:g.50791291C>T	ENSP00000377265:p.Pro85Ser						p.P85S	NM_003221	NP_003212	Q92481	AP2B_HUMAN			1	419	+	Lung NSC(77;0.156)		85			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.253C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.841831	0.91197	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	T;T;T	0.81330	-1.48;-1.48;-1.48	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.74881	2.28	0.80722	D	1	P	0.41673	0.759	B	0.37267	0.245	T	0.80828	-0.1208	10	0.56958	D	0.05	-9.2694	19.0884	0.93215	0.0:1.0:0.0:0.0	.	85	Q92481	AP2B_HUMAN	S	85;83;94	ENSP00000377265:P85S;ENSP00000342252:P83S;ENSP00000263046:P94S	ENSP00000263046:P94S	P	+	1	0	TFAP2B	50899250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.631000	0.83237	2.525000	0.85131	0.563000	0.77884	CCC		0.682	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
GJA10	84694	broad.mit.edu	37	6	90605129	90605129	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr6:90605129C>A	ENST00000369352.1	+	1	942	c.942C>A	c.(940-942)gaC>gaA	p.D314E	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TTGAAGTAGACCCTTCCAATG	0.498																																						uc011eaa.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(940-942)gaC>gaA		Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.							72.0	69.0	70.0					6																	90605129		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605129C>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.942C>A	6.37:g.90605129C>A	ENSP00000358358:p.Asp314Glu						p.D314E	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	0	942	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	314					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.942C>A	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609187	0.28623	.	.	ENSG00000135355	ENST00000369352	D	0.97831	-4.56	5.08	1.69	0.24217	.	0.239869	0.26359	N	0.024821	D	0.89795	0.6818	M	0.61703	1.905	0.09310	N	1	B	0.21381	0.055	B	0.15052	0.012	T	0.80881	-0.1184	10	0.24483	T	0.36	.	1.3698	0.02208	0.168:0.4195:0.1489:0.2635	.	314	Q969M2	CXA10_HUMAN	E	314	ENSP00000358358:D314E	ENSP00000358358:D314E	D	+	3	2	GJA10	90661850	0.000000	0.05858	0.067000	0.19924	0.706000	0.40770	-0.103000	0.10940	0.560000	0.29169	0.563000	0.77884	GAC		0.498	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
MPLKIP	136647	broad.mit.edu	37	7	40172717	40172717	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:40172717T>C	ENST00000306984.6	-	2	572	c.481A>G	c.(481-483)Agc>Ggc	p.S161G	C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000335693.4_5'Flank|C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000401647.2_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	161					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											TATTGTTGGCTTATATCCACT	0.363																																						uc003thl.4																			0											c.(481-483)Agc>Ggc		Homo sapiens chromosome 7 open reading frame 11 (C7orf11), mRNA.							161.0	149.0	153.0					7																	40172717		2203	4300	6503	SO:0001583	missense	136647				cell division|mitosis	microtubule organizing center|nucleus		g.chr7:40172717T>C	AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"""chromosome 7 open reading frame 11"""	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.481A>G	7.37:g.40172717T>C	ENSP00000304553:p.Ser161Gly					C7orf10_uc022acd.1_5'Flank|C7orf10_uc003thn.2_5'Flank|C7orf10_uc003tho.2_5'Flank	p.S161G	NM_138701	NP_619646	Q8TAP9	TTDN1_HUMAN			1	566	-			161						Missense_Mutation	SNP	ENST00000306984.6	37	c.481A>G	CCDS5463.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.349281	0.41599	.	.	ENSG00000168303	ENST00000306984	T	0.75477	-0.94	5.55	5.55	0.83447	.	0.255500	0.38111	N	0.001813	T	0.61426	0.2346	N	0.22421	0.69	0.30791	N	0.74096	B	0.13594	0.008	B	0.18561	0.022	T	0.63157	-0.6700	10	0.59425	D	0.04	-17.6805	10.9628	0.47395	0.0:0.072:0.0:0.928	.	161	Q8TAP9	TTDN1_HUMAN	G	161	ENSP00000304553:S161G	ENSP00000304553:S161G	S	-	1	0	C7orf11	40139242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.367000	0.59498	2.333000	0.79357	0.482000	0.46254	AGC		0.363	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701	
ADCY1	107	broad.mit.edu	37	7	45717835	45717835	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:45717835G>A	ENST00000297323.7	+	10	1893	c.1871G>A	c.(1870-1872)gGc>gAc	p.G624D		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	624					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCTTATTTGGCCTTGTCTAC	0.493																																						uc003tne.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1870-1872)gGc>gAc		Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						214.0	201.0	205.0					7																	45717835		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717835G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1871G>A	7.37:g.45717835G>A	ENSP00000297323:p.Gly624Asp						p.G624D	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			9	1889	+			624					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1871G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834698	0.91036	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.43688	0.94	5.02	5.02	0.67125	.	0.053701	0.85682	D	0.000000	T	0.40570	0.1122	M	0.71581	2.175	0.80722	D	1	P	0.35807	0.522	B	0.25140	0.058	T	0.40346	-0.9568	10	0.36615	T	0.2	.	16.1939	0.82011	0.0:0.0:1.0:0.0	.	624	Q08828	ADCY1_HUMAN	D	624	ENSP00000297323:G624D	ENSP00000297323:G624D	G	+	2	0	ADCY1	45684360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.245000	0.78237	2.482000	0.83794	0.655000	0.94253	GGC		0.493	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
SUN3	256979	broad.mit.edu	37	7	48056901	48056901	+	Silent	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:48056901A>G	ENST00000297325.4	-	3	405	c.246T>C	c.(244-246)taT>taC	p.Y82Y	SUN3_ENST00000453192.2_Silent_p.Y70Y|SUN3_ENST00000395572.2_Silent_p.Y82Y|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	82						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAATTATGGCATATAATTGTC	0.299																																						uc003tof.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(244-246)taT>taC		Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.							61.0	61.0	61.0					7																	48056901		2200	4291	6491	SO:0001819	synonymous_variant	256979					integral to membrane		g.chr7:48056901A>G	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.246T>C	7.37:g.48056901A>G						SUN3_uc003tog.3_Silent_p.Y82Y|SUN3_uc011kcf.2_Silent_p.Y70Y	p.Y82Y	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			3	343	-			82					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	c.246T>C	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.462262	0.01062	.	.	ENSG00000164744	ENST00000453071	.	.	.	4.73	1.03	0.20045	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25433	-1.0132	4	.	.	.	-19.5607	6.0791	0.19931	0.6299:0.0:0.3701:0.0	.	.	.	.	T	2	.	.	M	-	2	0	SUN3	48023426	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.112000	0.15479	0.022000	0.15160	0.460000	0.39030	ATG		0.299	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
TRPM3	80036	broad.mit.edu	37	9	73213424	73213424	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr9:73213424C>T	ENST00000377111.2	-	20	3166	c.2923G>A	c.(2923-2925)Gtg>Atg	p.V975M	TRPM3_ENST00000358082.3_Missense_Mutation_p.V837M|TRPM3_ENST00000377106.1_Missense_Mutation_p.V847M|TRPM3_ENST00000377110.3_Missense_Mutation_p.V975M|TRPM3_ENST00000408909.2_Missense_Mutation_p.V834M|TRPM3_ENST00000357533.2_Missense_Mutation_p.V979M|TRPM3_ENST00000396285.1_Missense_Mutation_p.V822M|TRPM3_ENST00000423814.3_Missense_Mutation_p.V1002M|TRPM3_ENST00000360823.2_Missense_Mutation_p.V837M|TRPM3_ENST00000396280.5_Missense_Mutation_p.V824M|TRPM3_ENST00000377105.1_Missense_Mutation_p.V834M|TRPM3_ENST00000396292.4_Missense_Mutation_p.V847M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1000					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGATGTTCACGCAGTAGATG	0.483																																						uc004aid.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2923-2925)Gtg>Atg		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.							137.0	126.0	130.0					9																	73213424		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73213424C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2923G>A	9.37:g.73213424C>T	ENSP00000366315:p.Val975Met					TRPM3_uc004ahu.3_Missense_Mutation_p.V805M|TRPM3_uc004ahv.3_Missense_Mutation_p.V777M|TRPM3_uc004ahw.3_Missense_Mutation_p.V847M|TRPM3_uc004ahx.3_Missense_Mutation_p.V834M|TRPM3_uc004ahy.3_Missense_Mutation_p.V837M|TRPM3_uc004ahz.3_Missense_Mutation_p.V824M|TRPM3_uc004aia.3_Missense_Mutation_p.V822M|TRPM3_uc004aib.3_Missense_Mutation_p.V812M|TRPM3_uc004aic.3_Missense_Mutation_p.V975M	p.V975M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN			19	3167	-			1000					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2923G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.75|17.75	3.467440|3.467440	0.63625|0.63625	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|D;D;D;D;D;D;D;D;D;D;D	.|0.98617	.|-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	4.87|4.87	3.97|3.97	0.46021|0.46021	.|.	.|0.072578	.|0.53938	.|D	.|0.000041	D|D	0.98741|0.98741	0.9577|0.9577	M|M	0.66378|0.66378	2.025|2.025	0.39287|0.39287	D|D	0.964678|0.964678	.|D;P;D;D;P;P;D;P	.|0.89917	.|0.996;0.921;1.0;0.999;0.5;0.861;0.999;0.481	.|D;P;D;D;P;P;D;P	.|0.81914	.|0.951;0.496;0.995;0.971;0.482;0.618;0.951;0.482	D|D	0.99886|0.99886	1.1123|1.1123	5|10	.|0.52906	.|T	.|0.07	-20.2036|-20.2036	13.3904|13.3904	0.60821|0.60821	0.0:0.923:0.0:0.077|0.0:0.923:0.0:0.077	.|.	.|975;975;965;979;837;834;947;822	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	H|M	823|975;975;847;837;834;979;834;822;847;837;1002	.|ENSP00000366315:V975M;ENSP00000366314:V975M;ENSP00000366310:V847M;ENSP00000354066:V837M;ENSP00000366309:V834M;ENSP00000350140:V979M;ENSP00000386127:V834M;ENSP00000379581:V822M;ENSP00000379587:V847M;ENSP00000350791:V837M;ENSP00000389542:V1002M	.|ENSP00000350140:V979M	R|V	-|-	2|1	0|0	TRPM3|TRPM3	72403244|72403244	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	3.930000|3.930000	0.56522|0.56522	1.178000|1.178000	0.42870|0.42870	0.573000|0.573000	0.79308|0.79308	CGT|GTG		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
ERP44	23071	broad.mit.edu	37	9	102784454	102784454	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr9:102784454C>T	ENST00000262455.6	-	5	540	c.341G>A	c.(340-342)cGt>cAt	p.R114H		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	114	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CATCCCATTACGAAACAATTT	0.393																																						uc004bam.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						c.(340-342)cGt>cAt		Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.							150.0	140.0	144.0					9																	102784454		2203	4300	6503	SO:0001583	missense	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102784454C>T	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.341G>A	9.37:g.102784454C>T	ENSP00000262455:p.Arg114His					ERP44_uc010msy.3_Non-coding_Transcript	p.R114H	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN			4	549	-			114			Thioredoxin.		O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	c.341G>A	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131960	0.77662	.	.	ENSG00000023318	ENST00000262455	T	0.42131	0.98	5.81	4.91	0.64330	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.49513	1.565	0.80722	D	1	B	0.34181	0.44	B	0.36418	0.224	T	0.44081	-0.9351	10	0.72032	D	0.01	-2.8096	15.3023	0.73962	0.0:0.9319:0.0:0.0681	.	114	Q9BS26	ERP44_HUMAN	H	114	ENSP00000262455:R114H	ENSP00000262455:R114H	R	-	2	0	ERP44	101824275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.406000	0.80017	2.752000	0.94435	0.557000	0.71058	CGT		0.393	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476	
ASMT	438	broad.mit.edu	37	X	1746630	1746630	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:1746630G>A	ENST00000381229.4	+	4	445	c.409G>A	c.(409-411)Gtt>Att	p.V137I	ASMT_ENST00000381233.3_Missense_Mutation_p.V137I|ASMT_ENST00000381241.3_Missense_Mutation_p.V137I			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	137					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GACGTTTGGCGTTCCCGCTGA	0.378																																						uc004cqd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(409-411)Gtt>Att		Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.							260.0	246.0	251.0					X																	1746630		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1746630G>A	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.409G>A	X.37:g.1746630G>A	ENSP00000370627:p.Val137Ile					ASMT_uc010ncy.3_Missense_Mutation_p.V137I|ASMT_uc004cqe.3_Missense_Mutation_p.V137I	p.V137I	NM_004043	NP_004034	P46597	HIOM_HUMAN			4	625	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	137					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.409G>A		.	.	.	.	.	.	.	.	.	.	N	0.006	-2.069166	0.00382	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.22945	1.93;1.93;4.46	1.48	-0.458	0.12182	.	0.455464	0.19837	N	0.104955	T	0.07818	0.0196	N	0.05441	-0.05	0.09310	N	1	B;B	0.31227	0.062;0.314	B;B	0.17722	0.011;0.019	T	0.30297	-0.9983	10	0.15952	T	0.53	.	4.2453	0.10669	0.7369:0.0:0.2631:0.0	.	137;137	P46597-2;P46597-3	.;.	I	137	ENSP00000370639:V137I;ENSP00000370627:V137I;ENSP00000370631:V137I	ENSP00000370627:V137I	V	+	1	0	ASMT	1706630	0.016000	0.18221	0.010000	0.14722	0.028000	0.11728	0.376000	0.20535	0.479000	0.27511	0.250000	0.18168	GTT		0.378	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043	
NR0B1	190	broad.mit.edu	37	X	30327199	30327199	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:30327199C>T	ENST00000378970.4	-	1	516	c.282G>A	c.(280-282)ccG>ccA	p.P94P	NR0B1_ENST00000453287.1_Silent_p.P94P|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	94	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P94P(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687																																						uc004dcf.4																			1	Substitution - coding silent(1)	p.P94P(2)	lung(1)	central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(280-282)ccG>ccA		Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	Dexamethasone(DB01234)|Tretinoin(DB00755)						27.0	26.0	26.0					X																	30327199		2195	4290	6485	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327199C>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.282G>A	X.37:g.30327199C>T							p.P94P	NM_000475	NP_000466	P51843	NR0B1_HUMAN			0	297	-			94			4 X 67 AA tandem repeats.		Q96F69	Silent	SNP	ENST00000378970.4	37	c.282G>A	CCDS14223.1																																																																																				0.687	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475	
KIAA2022	340533	broad.mit.edu	37	X	73962950	73962950	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:73962950C>T	ENST00000055682.6	-	3	2053	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	481					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTCTTGGCTCGCAGCCCATA	0.453																																						uc004eby.3																			0		p.R481*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1441-1443)cGa>cAa		Homo sapiens KIAA2022 (KIAA2022), mRNA.							61.0	51.0	54.0					X																	73962950		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962950C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1442G>A	X.37:g.73962950C>T	ENSP00000055682:p.Arg481Gln						p.R481Q	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			2	2059	-			481					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1442G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370035	0.82573	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.52057	0.68;0.68	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71097	-0.4691	10	0.87932	D	0	-6.8656	19.4774	0.94994	0.0:1.0:0.0:0.0	.	481	Q5QGS0	K2022_HUMAN	Q	481	ENSP00000362567:R481Q;ENSP00000055682:R481Q	ENSP00000055682:R481Q	R	-	2	0	KIAA2022	73879675	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.487000	0.81328	2.554000	0.86153	0.600000	0.82982	CGA		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
