#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	Capture	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.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(712-714)TGC>TAC		sweet taste receptor T1r isoform b							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.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.C238Y	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)	3	713	+	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			Extracellular (Potential).		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	Capture	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_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	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				ovary(1)|skin(1)	2						c.(343-345)GAAfs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				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_uc010nzt.1_Frame_Shift_Del_p.E77fs|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)	4	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	Capture	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.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1459-1461)CGG>CGA		kelch domain containing 7A							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.2_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)	1	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	Capture	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_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000356545.2_Silent_p.S172S|RSPO1_ENST00000401068.1_Silent_p.S172S	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.1																			0					0						c.(514-516)TCC>TCT		R-spondin1 precursor							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_uc001cbm.1_Silent_p.S172S|RSPO1_uc009vvf.1_Silent_p.S145S|RSPO1_uc009vvg.1_Intron	p.S172S	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN			7	1304	-		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	Capture	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_ENST00000564288.1_Missense_Mutation_p.A2322V|MACF1_ENST00000567887.1_Missense_Mutation_p.A2359V|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A762V|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_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																																						uc010oiu.1																			0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2284-2286)GCC>GTC		microfilament and actin filament cross-linker							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_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.A762V	NM_033044	NP_149033	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)		1	2416	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2327			Plectin 6.		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	Capture	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	MOB3C_ENST00000371940.1_Missense_Mutation_p.M145T|MOB3C_ENST00000271139.8_Missense_Mutation_p.M174T|MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	122							metal ion binding (GO:0046872)										GATCCAGTCCATGAGCAATGC	0.652																																						uc001cqf.3																			0				pancreas(1)	1						c.(364-366)ATG>ACG		MOB1, Mps One Binder kinase activator-like 2C							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|MOBKL2C_uc001cqe.3_Missense_Mutation_p.M174T	p.M122T	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN			2	596	-	Acute lymphoblastic leukemia(166;0.155)		122					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.365T>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	Capture	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.3																			0					0						c.(460-462)CGC>CAC		hypothetical protein LOC163747 isoform 2							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.3_Missense_Mutation_p.R154H	p.R154H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			4	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	Capture	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.2																			0				ovary(3)|skin(1)	4						c.(898-900)AAC>AAT		InaD-like							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_Translation_Start_Site	p.N300N	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			8	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	Capture	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_ENST00000369464.3_Silent_p.C158C|TRIM45_ENST00000369461.3_Silent_p.C101C	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				central_nervous_system(1)	1						c.(472-474)TGC>TGT		tripartite motif-containing 45 isoform 1							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|TRIM45_uc001eha.2_Silent_p.C54C	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)	1	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			B box-type 1.		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	Capture	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																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1723-1725)CGC>TGC		trichohyalin							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_uc009wne.1_Missense_Mutation_p.R575C	p.R575C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1723	-	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	Capture	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				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5269-5271)CGC>CAC		spectrin, alpha, erythrocytic 1							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			37	5469	-	all_hematologic(112;0.0378)		1757			Spectrin 17.		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	Capture	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_ENST00000392252.3_Missense_Mutation_p.G61S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.G61S|PYHIN1_ENST00000392254.2_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.2																			0				ovary(3)|pancreas(1)	4						c.(181-183)GGT>AGT		pyrin and HIN domain family, member 1 alpha 1							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.3_Missense_Mutation_p.G61S|PYHIN1_uc001ftc.2_Missense_Mutation_p.G61S|PYHIN1_uc001ftd.2_Missense_Mutation_p.G61S|PYHIN1_uc001fte.2_Missense_Mutation_p.G61S	p.G61S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			2	426	+	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	Capture	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.2																			0				ovary(2)|pancreas(1)	3						c.(2023-2025)ACG>ATG		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;		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.2_RNA	p.T675M	NM_178275	NP_840059					11	2796	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.2024C>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	Capture	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.1																			0				large_intestine(1)|ovary(1)	2						c.(913-915)ACG>ATG		olfactory receptor, family 2, subfamily T,							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)		1	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			Cytoplasmic (Potential).		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	Capture	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.2																			0				ovary(2)	2						c.(1579-1581)TTA>TCA		nebulette sarcomeric isoform							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.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.L527S	NM_006393	NP_006384	O76041	NEBL_HUMAN			16	1977	-			527			Nebulin 14.		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	Capture	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_ENST00000368676.4_Missense_Mutation_p.L458P|ADAM12_ENST00000467145.1_5'UTR	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				breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1372-1374)CTG>CCG		ADAM metallopeptidase domain 12 isoform 1							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.2_Missense_Mutation_p.L458P|ADAM12_uc001ljn.2_Missense_Mutation_p.L455P|ADAM12_uc001ljl.3_Missense_Mutation_p.L455P	p.L458P	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	13	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			Extracellular (Potential).|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	Capture	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_ENST00000537344.1_Silent_p.R824R|MICAL2_ENST00000342902.5_Silent_p.R993R|MICAL2_ENST00000527546.1_Silent_p.R824R|MICAL2_ENST00000379612.3_Silent_p.R788R	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.2																			1	Substitution - coding silent(1)		prostate(1)	upper_aerodigestive_tract(2)	2						c.(3040-3042)CGG>CGA		microtubule associated monoxygenase, calponin							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.2_Silent_p.R1014R|MICAL2_uc010rci.1_Silent_p.R993R|MICAL2_uc001mkb.2_Silent_p.R788R|MICAL2_uc001mkc.2_Silent_p.R767R|MICAL2_uc001mkd.2_Silent_p.R596R|MICAL2_uc010rcj.1_Silent_p.R226R|MICAL2_uc001mkf.2_RNA	p.R1014R	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	24	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	Capture	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_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_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.2																			0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13651-13653)CCC>CTC		AHNAK nucleoprotein isoform 1							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			5	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	Capture	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_ENST00000540933.1_Silent_p.A524A|GANAB_ENST00000534779.1_Silent_p.A529A|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)	uc001nub.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1861-1863)GCC>GCT		neutral alpha-glucosidase AB isoform 2							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_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Silent_p.A643A|GANAB_uc001nuc.2_Silent_p.A524A|GANAB_uc010rma.1_Silent_p.A529A|GANAB_uc010rmb.1_Silent_p.A507A	p.A621A	NM_198334	NP_938148	Q14697	GANAB_HUMAN			16	1896	-			621					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.1863C>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	Capture	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_ENST00000525451.2_5'Flank|MUS81_ENST00000533035.1_5'UTR|CFL1_ENST00000308162.5_5'Flank|CFL1_ENST00000534769.1_Intron|CFL1_ENST00000531413.1_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.3																			0					0						c.(163-165)CTG>TTG	Homologous_recombination	MUS81 endonuclease homolog							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.2_5'Flank|CFL1_uc001oft.2_5'Flank|CFL1_uc001ofu.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank	p.L55L	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	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	Capture	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.1																			0				ovary(1)	1						c.(40-42)CCC>CCT		olfactory receptor, family 2, subfamily AT,							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			1	42	-			14			Extracellular (Potential).		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	Capture	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.2										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				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(9031-9033)TCA>TCC		myeloid/lymphoid or mixed-lineage leukemia							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.2_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)	27	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	Capture	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.2																			0				ovary(1)|skin(1)	2						c.(3796-3798)AGC>CGC		hypothetical protein LOC55196							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					C12orf35_uc001rkt.2_5'Flank	p.S1266R	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	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	Capture	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.2																			0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(2995-2997)GAC>GGC		low density lipoprotein-related protein 1	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_RNA	p.D999G	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	20	3462	+			999			Extracellular (Potential).|LDL-receptor class A 6.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2996A>G	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	Capture	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_ENST00000536398.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000280774.5_Nonsense_Mutation_p.W11*|UBE3B_ENST00000537063.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000340074.5_Nonsense_Mutation_p.W11*|UBE3B_ENST00000540230.1_Nonsense_Mutation_p.W11*|UBE3B_ENST00000434735.2_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.2																			0				ovary(2)|lung(2)	4						c.(31-33)TGG>TAG		ubiquitin protein ligase E3B							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.2_Nonsense_Mutation_p.W11*|UBE3B_uc001tol.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.2_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.2_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.2_Nonsense_Mutation_p.W11*	p.W11*	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			3	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	Capture	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.2																			0				ovary(1)|skin(1)	2						c.(2749-2751)GCG>ACG		F-box and leucine-rich repeat protein 10 isoform							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_uc001uaq.2_Missense_Mutation_p.A357T|KDM2B_uc010szy.1_Missense_Mutation_p.A357T|KDM2B_uc001uar.2_Missense_Mutation_p.A508T|KDM2B_uc001uas.2_Missense_Mutation_p.A848T|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.A165T|KDM2B_uc010szx.1_Missense_Mutation_p.A165T|KDM2B_uc001uap.2_RNA	p.A917T	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			19	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	Capture	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				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(268-270)GGT>GTT		sacsin							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)	5	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	Capture	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_ENST00000354525.4_Missense_Mutation_p.D7G|ATL1_ENST00000556478.2_3'UTR|ATL1_ENST00000441560.2_Missense_Mutation_p.D7G|ATL1_ENST00000357032.3_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																																						uc001wyf.3																			0				skin(3)|central_nervous_system(1)	4						c.(19-21)GAC>GGC		atlastin GTPase 1 isoform a							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.3_Missense_Mutation_p.D7G|ATL1_uc001wye.3_Missense_Mutation_p.D7G	p.D7G	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN			1	261	+			7			Cytoplasmic.		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	Capture	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					0						c.(619-621)GCG>GCA		calmin		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)	7	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	Capture	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.2																			0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2551-2553)CTG>TTG		ATPase, class V, type 10A							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)	12	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			Cytoplasmic (Potential).		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	Capture	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_ENST00000442995.2_5'Flank|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000600633.1_5'Flank|RP11-296A16.1_ENST00000417761.2_Silent_p.A81A|SERINC4_ENST00000249714.3_Missense_Mutation_p.L29P|SERF2_ENST00000409646.1_Intron|HYPK_ENST00000406925.1_5'UTR|HYPK_ENST00000458412.1_5'Flank|SERINC4_ENST00000299969.6_Silent_p.A202A|SERF2_ENST00000594896.1_Intron	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																										uc010bds.1																			0					0						c.(85-87)CTT>CCT		serine incorporator 4							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.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_5'UTR|SERINC4_uc001zte.1_Missense_Mutation_p.L29P|C15orf63_uc001ztf.2_5'Flank|C15orf63_uc001ztg.1_5'Flank	p.L29P	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	3	554	-		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)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	Capture	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_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1452C|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1452C|GRIN2A_ENST00000535259.1_3'UTR	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					uc002czo.3																			0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(4354-4356)CGC>TGC		N-methyl-D-aspartate receptor subunit 2A isoform	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_uc010uym.1_Missense_Mutation_p.R1452C|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	p.R1452C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4902	-			1452			Cytoplasmic (Potential).		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	Capture	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_ENST00000404927.2_Missense_Mutation_p.R504W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R504W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R504W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R504W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R347W	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																																						uc002czo.3																			0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1510-1512)CGG>TGG		N-methyl-D-aspartate receptor subunit 2A isoform	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_uc010uym.1_Missense_Mutation_p.R504W|GRIN2A_uc010uyn.1_Missense_Mutation_p.R347W|GRIN2A_uc002czr.3_Missense_Mutation_p.R504W	p.R504W	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			7	2058	-			504			Extracellular (Potential).		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	Capture	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.2																			0				skin(1)	1						c.(2236-2238)GCG>ACG		cadherin 15 preproprotein							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)	14	2313	+			746			Cytoplasmic (Potential).			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	Capture	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.2																			0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.e4-1		phosphoribosylformylglycinamidine synthase	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.1_Splice_Site	p.R93_splice	NM_012393	NP_036525	O15067	PUR4_HUMAN			4	420	+								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	Capture	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_ENST00000538852.1_Missense_Mutation_p.G365R|NTN1_ENST00000546090.1_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.3																			0					0						c.(1093-1095)GGA>AGA		netrin 1 precursor							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			3	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	Capture	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.2																			0				breast(2)	2						c.(790-792)TGT>TTT		diacylglycerol kinase epsilon							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			5	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	Capture	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.2																			0					0						c.(1273-1275)GGC>GAC		midnolin							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)	8	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	Capture	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_ENST00000589620.1_Silent_p.L217L|FUT3_ENST00000589918.1_Silent_p.L217L|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_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					0						c.(649-651)CTC>CTT		fucosyltransferase 3							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	p.L217L	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			2	748	-			217			Lumenal (Potential).		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	Capture	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_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Missense_Mutation_p.A49S	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.3																			0					0						c.(145-147)GCC>TCC		RAB11B, member RAS oncogene family							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_uc010xkd.1_Missense_Mutation_p.A49S	p.A49S	NM_004218	NP_004209	Q15907	RB11B_HUMAN			2	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	Capture	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.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(17536-17538)AGG>ATG		mucin 16		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			3	17741	-			5848			Thr-rich.|Extracellular (Potential).		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	Capture	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9929295_9929296insG	ENST00000247977.4	-	2	328		c.e2-2		FBXL12_ENST00000586469.1_Intron|FBXL12_ENST00000589626.1_Splice_Site|AC008752.1_ENST00000401283.1_RNA|FBXL12_ENST00000585379.1_Splice_Site|FBXL12_ENST00000588922.1_Splice_Site|FBXL12_ENST00000586073.1_Splice_Site|FBXL12_ENST00000592067.1_Splice_Site|FBXL12_ENST00000586651.1_Frame_Shift_Ins_p.P65fs|SNORA70_ENST00000363367.1_RNA	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.2																			0				lung(1)|kidney(1)	2						c.e2-1		F-box and leucine-rich repeat protein 12				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.2_5'UTR|FBXL12_uc002mmf.2_Splice_Site|FBXL12_uc002mmg.2_Splice_Site|FBXL12_uc002mmh.2_Splice_Site	p.R29_splice	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			2	329	-								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	Capture	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.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1534-1536)CCT>TCT		coiled-coil domain containing 85A							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						p.P512S	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	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	Capture	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				ovary(1)	1						c.(1288-1290)TTT>CTT		RNA polymerase I polypeptide B isoform 1							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_uc010yxn.1_Missense_Mutation_p.F468L|POLR1B_uc002thy.2_Missense_Mutation_p.F291L|POLR1B_uc010yxo.1_Missense_Mutation_p.F207L	p.F430L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			8	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	Capture	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_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Silent_p.P29164P|TTN_ENST00000460472.2_Silent_p.P22667P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.P22792P|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.P22859P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.P31732P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			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																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(87490-87492)CCG>CCA		titin isoform N2-A							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						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P22859P|TTN_uc010zfi.1_Silent_p.P22792P|TTN_uc010zfj.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)		292	87716	-			30091					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	Capture	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.3																			0					0						c.(424-426)CGG>CGA		crystallin, gamma C							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							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)	3	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	Capture	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_ENST00000436005.2_Missense_Mutation_p.R162Q|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Missense_Mutation_p.R198Q	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.2																			0					0						c.(664-666)CGG>CAG		myofibrillogenesis regulator 1 isoform 1							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.2_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)	7	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	Capture	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_ENST00000372751.4_Intron|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000342716.4_Silent_p.N69N|RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000360607.6_Silent_p.N69N|MATN4_ENST00000372756.1_Silent_p.N69N|MATN4_ENST00000537548.1_Silent_p.N69N|MATN4_ENST00000353917.5_Silent_p.N69N			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)		skin(1)		0						c.(205-207)AAC>AAT		matrilin 4 isoform 1 precursor							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_uc002xno.2_Silent_p.N69N|MATN4_uc002xnp.2_Silent_p.N69N|MATN4_uc010zwr.1_Silent_p.N17N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.N69N	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	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	Capture	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.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(6412-6414)AGC>AAC		laminin alpha 5 precursor	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						p.S2138N	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		48	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	Capture	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_ENST00000421451.1_Missense_Mutation_p.K62E|SGOL1_ENST00000412997.1_Missense_Mutation_p.K62E|SGOL1_ENST00000425061.1_Missense_Mutation_p.K62E|SGOL1_ENST00000417364.1_Missense_Mutation_p.K62E|SGOL1_ENST00000443724.1_Missense_Mutation_p.K62E|SGOL1_ENST00000412868.1_Missense_Mutation_p.K62E|SGOL1_ENST00000437051.1_Missense_Mutation_p.K62E|SGOL1_ENST00000452020.1_Missense_Mutation_p.K62E|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Missense_Mutation_p.K62E|SGOL1_ENST00000383774.1_Missense_Mutation_p.K62E|SGOL1_ENST00000429446.3_Missense_Mutation_p.K62E|SGOL1_ENST00000306698.2_Missense_Mutation_p.K62E|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000442720.1_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																																						uc003cbs.2																			0					0						c.(184-186)AAA>GAA		shugoshin-like 1 isoform A2							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_uc003cbr.2_Missense_Mutation_p.K62E|SGOL1_uc010hfa.2_Missense_Mutation_p.K62E|SGOL1_uc003cbt.2_Missense_Mutation_p.K62E|SGOL1_uc003cbu.2_Missense_Mutation_p.K62E|SGOL1_uc003cbv.2_Missense_Mutation_p.K62E|SGOL1_uc003cbw.2_Missense_Mutation_p.K62E|SGOL1_uc003cbx.2_Missense_Mutation_p.K62E|SGOL1_uc003cby.2_Missense_Mutation_p.K62E|SGOL1_uc003cbz.2_Missense_Mutation_p.K62E|SGOL1_uc003cca.2_Missense_Mutation_p.K62E|SGOL1_uc003ccb.2_Missense_Mutation_p.K62E|SGOL1_uc003ccc.2_Missense_Mutation_p.K62E	p.K62E	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN			3	371	-			62			Potential.|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	Capture	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.1																			0		p.P28S(1)		ovary(1)|central_nervous_system(1)	2						c.(82-84)CCG>TCG		mitogen-activated protein kinase-activated							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.1_Missense_Mutation_p.P28S|MAPKAPK3_uc003dba.1_Missense_Mutation_p.P28S|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.P28S	p.P28S	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	4	678	+			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	Capture	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																																						uc003eev.3																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	GRCh37	CM076072	CASR	M		c.(2656-2658)CGG>TGG		calcium-sensing receptor precursor	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_uc003eew.3_Missense_Mutation_p.R896W	p.R886W	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3028	+			886		R -> W (could be associated with FHH).	Cytoplasmic (Potential).|Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2656C>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	Capture	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.1																			0				lung(3)|ovary(1)|central_nervous_system(1)	5						c.(721-723)CGG>CAG		growth hormone secretagogue receptor isoform 1a							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.1_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)		1	722	-	Ovarian(172;0.00143)|Breast(254;0.197)		241			Cytoplasmic (Potential).		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	Capture	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.2																			0				ovary(2)|central_nervous_system(1)	3						c.(8041-8043)GGA>AGA		WD repeat and FYVE domain containing 3 isoform							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_Missense_Mutation_p.G292R	p.G2681R	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	51	8449	-		Hepatocellular(203;0.114)	2681					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8041G>A	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	Capture	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.2																			0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(184-186)GGC>AGC		solute carrier organic anion transporter family,							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.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.2_Missense_Mutation_p.G62S	p.G62S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	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			Cytoplasmic (Potential).		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	Capture	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_ENST00000263046.4_Missense_Mutation_p.P94S|TFAP2B_ENST00000489228.1_3'UTR	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.2																			0					0						c.(253-255)CCC>TCC		transcription factor AP-2 beta							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			2	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	Capture	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.1																			0					0						c.(940-942)GAC>GAA		gap junction protein, alpha 10							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)	1	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			Cytoplasmic (Potential).		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	Capture	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_ENST00000309930.5_5'Flank|C7orf10_ENST00000335693.4_5'Flank|C7orf10_ENST00000401647.2_5'Flank|C7orf10_ENST00000540834.1_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.3																			0				breast(1)	1						c.(481-483)AGC>GGC	Direct_reversal_of_damage|Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	chromosome 7 open reading frame 11							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_uc003thm.1_5'Flank|C7orf10_uc003thn.1_5'Flank|C7orf10_uc003tho.1_5'Flank	p.S161G	NM_138701	NP_619646	Q8TAP9	TTDN1_HUMAN			2	573	-			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	Capture	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.3																			0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1870-1872)GGC>GAC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						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			10	1889	+			624			Helical; (Potential).		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	Capture	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_ENST00000395572.2_Silent_p.Y82Y|SUN3_ENST00000453192.2_Silent_p.Y70Y|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.2																			0				central_nervous_system(1)	1						c.(244-246)TAT>TAC		Sad1 and UNC84 domain containing 1							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.2_Silent_p.Y82Y|SUN3_uc011kcf.1_Silent_p.Y70Y	p.Y82Y	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			4	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	Capture	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_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	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.2		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(16)	central_nervous_system(15)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1792-1794)GGA>GTA		epidermal growth factor receptor isoform a	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.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	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)		15	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			Approximate.|Extracellular (Potential).		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	Capture	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_ENST00000396280.5_Missense_Mutation_p.V824M|TRPM3_ENST00000377105.1_Missense_Mutation_p.V834M|TRPM3_ENST00000358082.3_Missense_Mutation_p.V837M|TRPM3_ENST00000396292.4_Missense_Mutation_p.V847M|TRPM3_ENST00000408909.2_Missense_Mutation_p.V834M|TRPM3_ENST00000377110.3_Missense_Mutation_p.V975M|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_ENST00000377106.1_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.2																			0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2923-2925)GTG>ATG		transient receptor potential cation channel,							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.2_Missense_Mutation_p.V805M|TRPM3_uc004ahv.2_Missense_Mutation_p.V777M|TRPM3_uc004ahw.2_Missense_Mutation_p.V847M|TRPM3_uc004ahx.2_Missense_Mutation_p.V834M|TRPM3_uc004ahy.2_Missense_Mutation_p.V837M|TRPM3_uc004ahz.2_Missense_Mutation_p.V824M|TRPM3_uc004aia.2_Missense_Mutation_p.V822M|TRPM3_uc004aib.2_Missense_Mutation_p.V812M|TRPM3_uc004aic.2_Missense_Mutation_p.V975M	p.V975M	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			20	3167	-			1000			Helical; (Potential).		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	Capture	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.2																			0					0						c.(340-342)CGT>CAT		thioredoxin domain containing 4 (endoplasmic							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.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.R114H	p.R114H	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN			5	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	Capture	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_ENST00000381241.3_Missense_Mutation_p.V137I|ASMT_ENST00000381233.3_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.2																			0				skin(1)	1						c.(409-411)GTT>ATT		acetylserotonin O-methyltransferase							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.2_Missense_Mutation_p.V137I|ASMT_uc004cqe.2_Missense_Mutation_p.V137I	p.V137I	NM_004043	NP_004034	P46597	HIOM_HUMAN			5	554	+		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	Capture	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_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Silent_p.P94P	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.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(280-282)CCG>CCA		nuclear receptor subfamily 0, group B, member 1	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			1	297	-			94			4 X 67 AA tandem repeats.|2.		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	Capture	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.2																			0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1441-1443)CGA>CAA		hypothetical protein LOC340533							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			3	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	
