#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
CFAP74	85452	broad.mit.edu	37	1	1888142	1888142	+	IGR	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:1888142C>T								TMEM52 (37430 upstream) : C1orf222 (31420 downstream)																							AAGCCCCCAACGTTGGTCAGC	0.572																																						uc001aim.1																			0				pancreas(1)	1						c.(1933-1935)GTT>ATT		hypothetical protein LOC85452							71.0	78.0	76.0					1																	1888142		2163	4276	6439	SO:0001628	intergenic_variant	85452							g.chr1:1888142C>T																													1.37:g.1888142C>T						KIAA1751_uc009vkz.1_Missense_Mutation_p.V645I	p.V645I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	17	2089	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	645						Missense_Mutation	SNP		37	c.1933G>A		.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183686	0.01620	.	.	ENSG00000142609	ENST00000270720;ENST00000461752	.	.	.	4.75	-9.5	0.00584	.	2.720810	0.01303	N	0.010353	T	0.25827	0.0629	N	0.16307	0.4	0.20926	N	0.999823	B;B	0.20261	0.043;0.014	B;B	0.15870	0.014;0.005	T	0.20140	-1.0284	9	0.17369	T	0.5	0.3105	15.0979	0.72250	0.0:0.673:0.2226:0.1044	.	645;645	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	I	645;92	.	ENSP00000270720:V645I	V	-	1	0	C1orf222	1878002	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.358000	0.01085	-3.090000	0.00248	-1.731000	0.00696	GTT	0	0.572								
KIF1B	23095	broad.mit.edu	37	1	10425498	10425498	+	Missense_Mutation	SNP	G	G	A	rs375130478		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:10425498G>A	ENST00000377086.1	+	43	4746	c.4544G>A	c.(4543-4545)cGt>cAt	p.R1515H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1469H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R1515H			O60333	KIF1B_HUMAN	kinesin family member 1B	1515					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTGCTGCTGCGTGAGAGACTT	0.507																																						uc001aqx.3																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(4543-4545)CGT>CAT		kinesin family member 1B isoform b		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	71.0	71.0		4406	5.5	1.0	1		71	0,8600		0,0,4300	no	missense	KIF1B	NM_015074.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1469/1771	10425498	1,13005	2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425498G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4544G>A	1.37:g.10425498G>A	ENSP00000366290:p.Arg1515His					KIF1B_uc001aqw.3_Missense_Mutation_p.R1469H|KIF1B_uc001aqy.2_Missense_Mutation_p.R1489H|KIF1B_uc001aqz.2_Missense_Mutation_p.R1515H|KIF1B_uc001ara.2_Missense_Mutation_p.R1475H|KIF1B_uc001arb.2_Missense_Mutation_p.R1501H	p.R1515H	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4746	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1515					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4544G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.252181	0.95336	2.27E-4	0.0	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.75821	-0.89;-0.97;-0.97	5.48	5.48	0.80851	.	0.058042	0.64402	D	0.000003	D	0.85340	0.5674	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D;P	0.89917	0.999;0.988;0.993;1.0;0.999;0.938	D;P;P;D;P;P	0.85130	0.919;0.765;0.875;0.997;0.84;0.49	D	0.85723	0.1326	10	0.59425	D	0.04	.	19.3772	0.94517	0.0:0.0:1.0:0.0	.	1501;1475;1515;1489;1515;1469	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	1515;1469;1515;1515	ENSP00000263934:R1469H;ENSP00000366290:R1515H;ENSP00000366284:R1515H	ENSP00000263934:R1469H	R	+	2	0	KIF1B	10348085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.915000	0.63355	2.560000	0.86352	0.650000	0.86243	CGT		0.507	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
RPL11	6135	broad.mit.edu	37	1	24019182	24019185	+	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:24019182_24019185delAGAC	ENST00000374550.3	+	2	135_138	c.90_93delAGAC	c.(88-93)ggagacfs	p.GD30fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGGAGAGTGGAGACAGACTGACGC	0.544																																						uc001bhk.2																			0				central_nervous_system(1)	1						c.(88-93)GGAGACfs		ribosomal protein L11																																				SO:0001589	frameshift_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019182_24019185delAGAC	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.90_93delAGAC	1.37:g.24019186_24019189delAGAC	ENSP00000363676:p.Gly30fs					RPL11_uc001bhl.2_Frame_Shift_Del_p.G29fs|RPL11_uc001bhm.2_Frame_Shift_Del_p.G19fs|RPL11_uc001bhn.1_Frame_Shift_Del_p.G19fs	p.G30fs	NM_000975	NP_000966	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	110_113	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	30_31	D -> G (in Ref. 1; CAA55816).				P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL	ENST00000374550.3	37	c.90_93delAGAC	CCDS238.1																																																																																				0.544	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975	
CNKSR1	10256	broad.mit.edu	37	1	26507077	26507077	+	Silent	SNP	C	C	T	rs200570653		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:26507077C>T	ENST00000374253.5	+	2	225	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Silent_p.G62G	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	62	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.0				NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3																			0				lung(1)|kidney(1)	2						c.(184-186)GGC>GGT		connector enhancer of kinase suppressor of Ras		C		5,4401	11.4+/-27.6	0,5,2198	46.0	51.0	49.0		186	-3.8	0.2	1		49	0,8600		0,0,4300	no	coding-synonymous	CNKSR1	NM_006314.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		62/714	26507077	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507077C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.186C>T	1.37:g.26507077C>T						CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.G62G|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	p.G62G	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	2	244	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	62			SAM.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.186C>T																																																																																					0.657	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
A3GALT2	127550	broad.mit.edu	37	1	33772943	33772943	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:33772943G>A	ENST00000442999.3	-	5	446	c.447C>T	c.(445-447)cgC>cgT	p.R149R	RP11-415J8.3_ENST00000457957.2_RNA|A3GALT2_ENST00000330379.5_Silent_p.R94R|RP11-415J8.3_ENST00000588828.1_RNA	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				CCAGCGCCACGCGGGGCACCG	0.716																																						uc001bxd.1																			0											c.(445-447)CGC>CGT		RecName: Full=Alpha 1,3-galactosyltransferase 2;          Short=A3galt2;          EC=2.4.1.87; AltName: Full=Isoglobotriaosylceramide synthase; AltName: Full=iGb3 synthase;          Short=iGb3S; Flags: Precursor;							19.0	20.0	20.0					1																	33772943		1814	3947	5761	SO:0001819	synonymous_variant	0							g.chr1:33772943G>A		CCDS60080.1	1p35.1	2013-09-05	2013-03-11	2013-03-11	ENSG00000184389	ENSG00000184389		"""Glycosyltransferase family 6 domain containing"""	30005	protein-coding gene	gene with protein product	"""iGb3 synthase"", ""isoglobotriaosylceramide synthase"""		"""alpha 1,3-galactosyltransferase 2, pseudogene"""	A3GALT2P		10854427, 18630988	Standard	NM_001080438		Approved	IGBS3S	uc031plq.1		OTTHUMG00000004125	ENST00000442999.3:c.447C>T	1.37:g.33772943G>A							p.R149R	NM_001080438	NP_001073907					5	447	-									Silent	SNP	ENST00000442999.3	37	c.447C>T																																																																																					0.716	A3GALT2-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000011861.3	NM_001080438	
TACSTD2	4070	broad.mit.edu	37	1	59042498	59042498	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:59042498C>T	ENST00000371225.2	-	1	668	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	111	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					AAGCGGCCCTCGGGGTCGCAG	0.706																																						uc001cyz.3																			0					0						c.(331-333)GAG>AAG		tumor-associated calcium signal transducer 2							16.0	13.0	14.0					1																	59042498		2189	4287	6476	SO:0001583	missense	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042498C>T	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.331G>A	1.37:g.59042498C>T	ENSP00000360269:p.Glu111Lys						p.E111K	NM_002353	NP_002344	P09758	TACD2_HUMAN			1	669	-	all_cancers(7;6.54e-05)		111			Extracellular (Potential).|Thyroglobulin type-1.		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	c.331G>A	CCDS609.1	.	.	.	.	.	.	.	.	.	.	C	6.913	0.538085	0.13188	.	.	ENSG00000184292	ENST00000371225	T	0.62498	0.02	4.39	-0.15	0.13416	Thyroglobulin type-1 (6);	0.548561	0.20296	N	0.095136	T	0.22475	0.0542	N	0.01048	-1.04	0.09310	N	1	B	0.27997	0.197	B	0.26614	0.071	T	0.26155	-1.0111	10	0.15066	T	0.55	-23.6061	3.8314	0.08876	0.1477:0.2482:0.4919:0.1121	.	111	P09758	TACD2_HUMAN	K	111	ENSP00000360269:E111K	ENSP00000360269:E111K	E	-	1	0	TACSTD2	58815086	0.275000	0.24201	0.141000	0.22245	0.836000	0.47400	1.541000	0.36126	0.089000	0.17243	-0.305000	0.09177	GAG		0.706	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353	
CCDC18	343099	broad.mit.edu	37	1	93698049	93698049	+	Missense_Mutation	SNP	G	G	A	rs200030282		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:93698049G>A	ENST00000343253.7	+	18	2858	c.2356G>A	c.(2356-2358)Gtt>Att	p.V786I	CCDC18_ENST00000557479.1_Missense_Mutation_p.V905I|CCDC18_ENST00000338949.4_Missense_Mutation_p.V542I|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000334652.5_Missense_Mutation_p.V82I|CCDC18_ENST00000401026.3_Missense_Mutation_p.V787I			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	786										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAGCAAAACGTTATTCTACA	0.318													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17350	0.0		0.0	False		,,,				2504	0.0					uc001dpq.2																			0				ovary(2)|breast(2)|pancreas(1)	5						c.(2713-2715)GTT>ATT		sarcoma antigen NY-SAR-41							106.0	101.0	103.0					1																	93698049		1833	4098	5931	SO:0001583	missense	343099							g.chr1:93698049G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2356G>A	1.37:g.93698049G>A	ENSP00000343377:p.Val786Ile					CCDC18_uc009wdl.1_Missense_Mutation_p.V422I	p.V905I	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	18	2881	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	786			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2713G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.121	-0.401516	0.04865	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	.	.	.	5.71	3.84	0.44239	.	0.494876	0.21216	N	0.078226	T	0.08846	0.0219	N	0.14661	0.345	0.09310	N	1	B;B	0.25809	0.135;0.002	B;B	0.16722	0.016;0.002	T	0.25152	-1.0140	9	0.21540	T	0.41	.	9.6847	0.40091	0.1498:0.1218:0.7284:0.0	.	786;905	Q5T9S5;G3V388	CCD18_HUMAN;.	I	786;787;905;542;82;462	.	ENSP00000334084:V82I	V	+	1	0	CCDC18	93470637	0.996000	0.38824	0.436000	0.26797	0.034000	0.12701	1.584000	0.36589	0.771000	0.33359	-1.305000	0.01319	GTT		0.318	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
NOTCH2	4853	broad.mit.edu	37	1	120510196	120510196	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:120510196C>T	ENST00000256646.2	-	8	1532	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	438	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGAAGGCGCCATCCGTGTT	0.478			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1312-1314)GGC>GAC		notch 2 preproprotein							165.0	131.0	142.0					1																	120510196		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510196C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1313G>A	1.37:g.120510196C>T	ENSP00000256646:p.Gly438Asp					NOTCH2_uc001eil.2_Missense_Mutation_p.G438D|NOTCH2_uc001eim.3_Missense_Mutation_p.G355D	p.G438D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1569	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	438			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1313G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158218	0.78114	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.99557	-6.16	5.53	5.53	0.82687	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.36338	U	0.002656	D	0.99576	0.9847	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98588	1.0653	10	0.62326	D	0.03	.	18.4574	0.90725	0.0:1.0:0.0:0.0	.	399;438;438	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	D	438;399	ENSP00000256646:G438D	ENSP00000256646:G438D	G	-	2	0	NOTCH2	120311719	1.000000	0.71417	0.984000	0.44739	0.376000	0.30014	7.487000	0.81328	2.585000	0.87301	0.650000	0.86243	GGC		0.478	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
PTCHD3	374308	broad.mit.edu	37	10	27688091	27688091	+	Missense_Mutation	SNP	A	A	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr10:27688091A>T	ENST00000438700.3	-	4	1553	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	479	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GACATTGGACATCCGCTCTCG	0.403																																						uc001itu.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(1435-1437)ATG>AAG		patched domain containing 3							84.0	72.0	76.0					10																	27688091		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688091A>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1436T>A	10.37:g.27688091A>T	ENSP00000417658:p.Met479Lys						p.M479K	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	1554	-			479			SSD.		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1436T>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055181	0.36277	.	.	ENSG00000182077	ENST00000438700	D	0.87650	-2.28	3.84	3.84	0.44239	Sterol-sensing domain (1);	0.518245	0.21170	N	0.079000	D	0.91385	0.7282	M	0.66297	2.02	0.38053	D	0.93583	D	0.64830	0.994	D	0.66351	0.943	D	0.92930	0.6363	10	0.87932	D	0	-5.434	12.4455	0.55649	1.0:0.0:0.0:0.0	.	479	Q3KNS1	PTHD3_HUMAN	K	479	ENSP00000417658:M479K	ENSP00000417658:M479K	M	-	2	0	PTCHD3	27728097	1.000000	0.71417	0.003000	0.11579	0.148000	0.21650	7.228000	0.78079	1.598000	0.50083	0.397000	0.26171	ATG		0.403	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
SHOC2	8036	broad.mit.edu	37	10	112696573	112696573	+	Intron	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr10:112696573T>C	ENST00000369452.4	+	1	111				SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.H140R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GTGAGCCAGGTGCCCCAGATA	0.537																																						uc010qrh.1																			2	Substitution - Missense(2)		prostate(1)|kidney(1)		0						c.(418-420)CAC>CGC		SubName: Full=cDNA FLJ51256, highly similar to 60S ribosomal protein L13a;																																				SO:0001627	intron_variant	644511							g.chr10:112696573T>C	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.-235+17158T>C	10.37:g.112696573T>C						SHOC2_uc001kzl.3_Intron|SHOC2_uc009xxx.2_Intron|SHOC2_uc010qrg.1_Intron	p.H140R	NR_026715						1	441	-								A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.419A>G	CCDS7568.1																																																																																				0.537	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
TRIM3	10612	broad.mit.edu	37	11	6470405	6470405	+	Missense_Mutation	SNP	G	G	C	rs370951694		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:6470405G>C	ENST00000525074.1	-	12	2482	c.2088C>G	c.(2086-2088)ttC>ttG	p.F696L	TRIM3_ENST00000345851.3_Missense_Mutation_p.F696L|TRIM3_ENST00000537602.1_Missense_Mutation_p.F618L|TRIM3_ENST00000536344.1_Missense_Mutation_p.F577L|TRIM3_ENST00000359518.3_Missense_Mutation_p.F696L	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	696					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F696L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCTGTCGAATACCTGGG	0.562																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2																			1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(2086-2088)TTC>TTG		tripartite motif-containing 3							91.0	79.0	83.0					11																	6470405		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6470405G>C	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.2088C>G	11.37:g.6470405G>C	ENSP00000433102:p.Phe696Leu					TRIM3_uc001mdi.2_Missense_Mutation_p.F696L|TRIM3_uc010raj.1_Missense_Mutation_p.F577L|TRIM3_uc009yfd.2_Missense_Mutation_p.F696L	p.F696L	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	2475	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	696			NHL 5.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.2088C>G	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585584	0.46110	.	.	ENSG00000110171	ENST00000525074;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.8	1.21	0.21127	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.72118	2.19	0.48452	D	0.999655	B;B	0.31256	0.139;0.316	B;P	0.48454	0.177;0.578	T	0.75593	-0.3264	10	0.46703	T	0.11	-16.8289	6.992	0.24761	0.725:0.0:0.275:0.0	.	577;696	F5H2Q8;O75382	.;TRIM3_HUMAN	L	696;696;685;618;696;577	ENSP00000433102:F696L;ENSP00000340797:F696L;ENSP00000441091:F618L;ENSP00000352508:F696L;ENSP00000445460:F577L	ENSP00000337094:F685L	F	-	3	2	TRIM3	6426981	0.980000	0.34600	0.999000	0.59377	0.997000	0.91878	0.320000	0.19540	0.160000	0.19432	0.563000	0.77884	TTC		0.562	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
SYT9	143425	broad.mit.edu	37	11	7324279	7324279	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:7324279T>C	ENST00000318881.6	+	2	392	c.155T>C	c.(154-156)gTg>gCg	p.V52A	SYT9_ENST00000396716.2_Missense_Mutation_p.V20A	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	52					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GATATCTCAGTGAGCCTGCTG	0.537																																						uc001mfe.2																			0				ovary(2)|large_intestine(1)	3						c.(154-156)GTG>GCG		synaptotagmin IX							162.0	146.0	152.0					11																	7324279		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324279T>C	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.155T>C	11.37:g.7324279T>C	ENSP00000324419:p.Val52Ala					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.V52A	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	392	+			52			Vesicular (Potential).			Missense_Mutation	SNP	ENST00000318881.6	37	c.155T>C	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559991	0.86335	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	.	0.102021	0.44483	D	0.000454	T	0.56819	0.2011	L	0.50333	1.59	0.54753	D	0.999983	P	0.51351	0.944	P	0.54431	0.752	T	0.59947	-0.7358	10	0.87932	D	0	.	14.3021	0.66359	0.0:0.0:0.0:1.0	.	52	Q86SS6	SYT9_HUMAN	A	20;52	ENSP00000379944:V20A;ENSP00000324419:V52A	ENSP00000324419:V52A	V	+	2	0	SYT9	7280855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.270000	0.75569	0.528000	0.53228	GTG		0.537	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
ANO1	55107	broad.mit.edu	37	11	69924755	69924755	+	Missense_Mutation	SNP	C	C	T	rs199763025		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:69924755C>T	ENST00000355303.5	+	1	348	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	ANO1_ENST00000538023.1_Missense_Mutation_p.R15C|ANO1_ENST00000398543.2_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	15					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GGCCGAGGACCGCAGCGTCCA	0.731													C|||	1	0.000199681	0.0	0.0	5008	,	,		5224	0.0		0.001	False		,,,				2504	0.0					uc001opj.2																			0				ovary(1)|pancreas(1)	2						c.(43-45)CGC>TGC		anoctamin 1, calcium activated chloride channel		C	CYS/ARG	0,4112		0,0,2056	20.0	24.0	23.0		43	2.2	1.0	11		23	2,8368		0,2,4183	yes	missense	ANO1	NM_018043.5	180	0,2,6239	TT,TC,CC		0.0239,0.0,0.016	possibly-damaging	15/987	69924755	2,12480	2056	4185	6241	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69924755C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.43C>T	11.37:g.69924755C>T	ENSP00000347454:p.Arg15Cys						p.R15C	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			1	348	+			15			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.43C>T	CCDS44663.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	17.30	3.355792	0.61293	0.0	2.39E-4	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000531604	T;T;T	0.66638	-0.12;-0.22;0.84	3.23	2.2	0.27929	.	0.444680	0.17019	U	0.190202	T	0.39332	0.1074	N	0.22421	0.69	0.80722	D	1	P	0.46277	0.875	B	0.31547	0.132	T	0.22452	-1.0216	9	.	.	.	.	5.0575	0.14540	0.2934:0.5813:0.0:0.1252	.	15	Q5XXA6	ANO1_HUMAN	C	15	ENSP00000347454:R15C;ENSP00000444689:R15C;ENSP00000436392:R15C	.	R	+	1	0	ANO1	69602403	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.556000	0.45862	1.518000	0.48934	0.306000	0.20318	CGC		0.731	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043	
NOX4	50507	broad.mit.edu	37	11	89155085	89155085	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:89155085G>A	ENST00000263317.4	-	8	852	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NOX4_ENST00000527956.1_Missense_Mutation_p.T181M|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.T181M|NOX4_ENST00000413594.2_Missense_Mutation_p.T226M|NOX4_ENST00000535633.1_Missense_Mutation_p.T181M|NOX4_ENST00000343727.5_Missense_Mutation_p.T181M|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.T180M|NOX4_ENST00000532825.1_Missense_Mutation_p.T181M|NOX4_ENST00000534731.1_Missense_Mutation_p.T205M|NOX4_ENST00000527626.1_Missense_Mutation_p.T39M|NOX4_ENST00000424319.1_Missense_Mutation_p.T181M|NOX4_ENST00000525196.1_Missense_Mutation_p.T205M			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	205	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACATGCAACGTCAGCAGCAT	0.333																																						uc001pct.2																			0				ovary(1)|central_nervous_system(1)	2						c.(613-615)ACG>ATG		NADPH oxidase 4 isoform a							103.0	100.0	101.0					11																	89155085		2201	4296	6497	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89155085G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.614C>T	11.37:g.89155085G>A	ENSP00000263317:p.Thr205Met					NOX4_uc009yvr.2_Missense_Mutation_p.T180M|NOX4_uc001pcu.2_Missense_Mutation_p.T131M|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.T205M|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.T39M|NOX4_uc009yvp.2_Missense_Mutation_p.T205M|NOX4_uc010rtv.1_Missense_Mutation_p.T181M|NOX4_uc009yvq.2_Missense_Mutation_p.T181M|NOX4_uc009yvs.1_RNA	p.T205M	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			8	853	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	205			Helical; (Potential).|Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.614C>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	9.064	0.995264	0.19043	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D;D	0.95035	-3.53;-3.53;-3.53;-3.5;-3.56;-3.45;-3.59;-3.53;-3.53;-3.27;-3.5;-3.56	5.72	4.59	0.56863	.	0.525534	0.22592	N	0.058072	D	0.85561	0.5725	N	0.08118	0	0.22226	N	0.999279	B;B;B;B;B;B	0.10296	0.0;0.0;0.002;0.0;0.001;0.003	B;B;B;B;B;B	0.11329	0.001;0.0;0.006;0.0;0.001;0.0	T	0.71899	-0.4453	9	.	.	.	-2.2862	9.4479	0.38708	0.9183:0.0:0.0817:0.0	.	181;39;180;205;205;205	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	M	181;181;181;205;205;205;181;181;181;39;180;226	ENSP00000412446:T181M;ENSP00000440172:T181M;ENSP00000344747:T181M;ENSP00000436892:T205M;ENSP00000436716:T205M;ENSP00000263317:T205M;ENSP00000434924:T181M;ENSP00000433797:T181M;ENSP00000439373:T181M;ENSP00000436093:T39M;ENSP00000436970:T180M;ENSP00000405705:T226M	.	T	-	2	0	NOX4	88794733	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.939000	0.63526	1.005000	0.39183	-0.324000	0.08512	ACG		0.333	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
CARD16	114769	broad.mit.edu	37	11	104915384	104915384	+	Splice_Site	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:104915384G>T	ENST00000375706.2	-	2	26	c.9C>A	c.(7-9)gaC>gaA	p.D3E	CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Splice_Site_p.D3E|CARD16_ENST00000525374.1_Splice_Site_p.D3E|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	3	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TCAGGACCTTGTCTGTTTGGA	0.408																																						uc001pip.1																			0				skin(1)	1						c.(7-9)GAC>GAA		caspase-1 dominant-negative inhibitor pseudo-ICE							232.0	216.0	221.0					11																	104915384		2202	4299	6501	SO:0001630	splice_region_variant	114769				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:104915384G>T		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.8-1C>A	11.37:g.104915384G>T						CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.D3E	p.D3E	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN			2	36	-			3			CARD.		Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.9C>A	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.551383	0.45383	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374	T;T;T	0.14640	2.49;2.49;2.49	3.13	1.11	0.20524	DEATH-like (2);Caspase Recruitment (2);	0.338358	0.23532	U	0.047175	T	0.33000	0.0848	M	0.85710	2.77	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.74348	0.983;0.904	T	0.04509	-1.0946	10	0.87932	D	0	.	5.1216	0.14863	0.2959:0.0:0.7041:0.0	.	3;3	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	E	3	ENSP00000364858:D3E;ENSP00000364856:D3E;ENSP00000433700:D3E	ENSP00000364856:D3E	D	-	3	2	CARD16	104420594	0.962000	0.33011	0.158000	0.22627	0.155000	0.21991	1.084000	0.30828	0.610000	0.30035	0.484000	0.47621	GAC		0.408	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1		Missense_Mutation
OLR1	4973	broad.mit.edu	37	12	10319338	10319338	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:10319338T>A	ENST00000309539.3	-	3	457	c.397A>T	c.(397-399)Aca>Tca	p.T133S	OLR1_ENST00000543993.1_Missense_Mutation_p.T29S|OLR1_ENST00000432556.2_Missense_Mutation_p.T133S|OLR1_ENST00000545927.1_Missense_Mutation_p.T133S|OLR1_ENST00000544577.1_Missense_Mutation_p.T133S	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	133	Neck.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCTTCAGTGTTTCTTGGAGA	0.403																																						uc001qxo.1																			0				ovary(1)	1						c.(397-399)ACA>TCA		oxidized low density lipoprotein (lectin-like)							168.0	159.0	162.0					12																	10319338		2203	4300	6503	SO:0001583	missense	4973				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	g.chr12:10319338T>A	D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.397A>T	12.37:g.10319338T>A	ENSP00000309124:p.Thr133Ser					OLR1_uc010sgz.1_Missense_Mutation_p.T29S|OLR1_uc010sha.1_Missense_Mutation_p.T133S	p.T133S	NM_002543	NP_002534	P78380	OLR1_HUMAN			3	511	-			133			Extracellular (Potential).|Neck.		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Missense_Mutation	SNP	ENST00000309539.3	37	c.397A>T	CCDS8618.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584056	0.28268	.	.	ENSG00000173391	ENST00000309539;ENST00000544577;ENST00000543993;ENST00000545927;ENST00000432556;ENST00000539518;ENST00000538745;ENST00000339968;ENST00000538873;ENST00000543414	T;T;T;T;T;T;T	0.34275	2.32;1.37;2.32;2.32;2.32;2.32;2.32	5.08	3.23	0.37069	C-type lectin-like (1);	0.269311	0.26895	N	0.021960	T	0.24586	0.0596	L	0.39245	1.2	0.21950	N	0.999454	B;B	0.20780	0.048;0.042	B;B	0.21708	0.036;0.015	T	0.23261	-1.0193	10	0.10902	T	0.67	.	7.93	0.29897	0.0:0.8002:0.0:0.1998	.	133;133	B4DI48;P78380	.;OLR1_HUMAN	S	133;133;29;133;133;80;29;29;29;80	ENSP00000309124:T133S;ENSP00000439251:T133S;ENSP00000442389:T80S;ENSP00000438925:T29S;ENSP00000340572:T29S;ENSP00000438744:T29S;ENSP00000444068:T80S	ENSP00000309124:T133S	T	-	1	0	OLR1	10210605	0.997000	0.39634	0.998000	0.56505	0.400000	0.30750	0.368000	0.20399	0.785000	0.33685	-0.242000	0.12053	ACA		0.403	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543	
CSRNP2	81566	broad.mit.edu	37	12	51457947	51457947	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:51457947G>A	ENST00000228515.1	-	5	1511	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	405					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCTGTTCACCGTTGAGGCAGT	0.567																																						uc001rxu.1																			0					0						c.(1213-1215)ACG>ATG		TGF-beta induced apoptosis protein 12							90.0	92.0	92.0					12																	51457947		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51457947G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1214C>T	12.37:g.51457947G>A	ENSP00000228515:p.Thr405Met						p.T405M	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN			5	1512	-			405						Missense_Mutation	SNP	ENST00000228515.1	37	c.1214C>T	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309740	0.23821	.	.	ENSG00000110925	ENST00000228515	T	0.46819	0.86	4.91	4.91	0.64330	.	0.958264	0.08707	N	0.905516	T	0.33760	0.0874	N	0.08118	0	0.09310	N	0.999999	B	0.33748	0.423	B	0.32583	0.148	T	0.32428	-0.9907	10	0.38643	T	0.18	-0.328	17.3939	0.87439	0.0:0.0:1.0:0.0	.	405	Q9H175	CSRN2_HUMAN	M	405	ENSP00000228515:T405M	ENSP00000228515:T405M	T	-	2	0	CSRNP2	49744214	0.849000	0.29639	0.095000	0.20976	0.814000	0.46013	5.485000	0.66850	2.728000	0.93425	0.555000	0.69702	ACG		0.567	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1		
MYO1A	4640	broad.mit.edu	37	12	57430106	57430106	+	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:57430106G>T	ENST00000442789.2	-	23	2621	c.2334C>A	c.(2332-2334)ttC>ttA	p.F778L	MYO1A_ENST00000300119.3_Missense_Mutation_p.F778L|MYO1A_ENST00000544473.1_Missense_Mutation_p.F616L|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	778					microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTGTAGATGAAATCTGCCA	0.502																																						uc001smw.3																			0				skin(4)|ovary(2)|urinary_tract(1)	7						c.(2332-2334)TTC>TTA		myosin IA							160.0	158.0	159.0					12																	57430106		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57430106G>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2334C>A	12.37:g.57430106G>T	ENSP00000393392:p.Phe778Leu					MYO1A_uc010sqz.1_Missense_Mutation_p.F616L|MYO1A_uc009zpd.2_Missense_Mutation_p.F778L	p.F778L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			22	2577	-			778					Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2334C>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073670	0.55646	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87029	-2.11;-2.11;-2.2	4.79	3.36	0.38483	.	0.353983	0.32231	N	0.006385	D	0.85600	0.5734	M	0.77820	2.39	0.47862	D	0.999532	D	0.56521	0.976	B	0.44315	0.446	T	0.83088	-0.0134	10	0.48119	T	0.1	.	6.5561	0.22462	0.1924:0.0:0.8076:0.0	.	778	Q9UBC5	MYO1A_HUMAN	L	778;778;616	ENSP00000300119:F778L;ENSP00000393392:F778L;ENSP00000440514:F616L	ENSP00000300119:F778L	F	-	3	2	MYO1A	55716373	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.729000	0.38115	0.763000	0.33175	0.563000	0.77884	TTC		0.502	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
IL22	50616	broad.mit.edu	37	12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68646552C>T	ENST00000538666.1	-	3	314	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_ENST00000328087.4_Missense_Mutation_p.G82R			Q9GZX6	IL22_HUMAN	interleukin 22	82					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498																																						uc001sty.1																			0					0						c.(244-246)GGA>AGA		interleukin 22 precursor							136.0	117.0	123.0					12																	68646552		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68646552C>T	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.244G>A	12.37:g.68646552C>T	ENSP00000442424:p.Gly82Arg					IL22_uc010stb.1_Missense_Mutation_p.G82R	p.G82R	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	2	297	-		Myeloproliferative disorder(1001;0.0255)	82						Missense_Mutation	SNP	ENST00000538666.1	37	c.244G>A	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.709901	0.48517	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.44482	0.92;0.92	5.13	5.13	0.70059	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.319863	0.26383	N	0.024685	T	0.60521	0.2275	M	0.72118	2.19	0.34206	D	0.673707	D	0.89917	1.0	D	0.97110	1.0	T	0.69785	-0.5051	9	.	.	.	-8.155	10.4182	0.44335	0.0:0.9088:0.0:0.0912	.	82	Q9GZX6	IL22_HUMAN	R	82	ENSP00000442424:G82R;ENSP00000329384:G82R	.	G	-	1	0	IL22	66932819	0.451000	0.25705	0.916000	0.36221	0.145000	0.21501	1.230000	0.32612	2.768000	0.95171	0.558000	0.71614	GGA		0.498	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525	
MDM1	56890	broad.mit.edu	37	12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68719231G>A	ENST00000303145.7	-	4	709	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	208					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338																																						uc001stz.2																			0				ovary(3)|skin(2)	5						c.(622-624)GCA>GTA		mouse Mdm1 nuclear protein homolog isoform 1							121.0	133.0	129.0					12																	68719231		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68719231G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.623C>T	12.37:g.68719231G>A	ENSP00000302537:p.Ala208Val					MDM1_uc010stc.1_Intron|MDM1_uc009zqv.1_5'UTR|MDM1_uc001sua.3_3'UTR|MDM1_uc010std.1_3'UTR	p.A208V	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	4	759	-			208					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.623C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677391	0.68042	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	.	0.230365	0.43579	D	0.000546	T	0.48714	0.1515	M	0.75264	2.295	0.80722	D	1	D	0.55172	0.97	P	0.51657	0.676	T	0.47787	-0.9090	9	.	.	.	-1.8086	19.3236	0.94252	0.0:0.0:1.0:0.0	.	208	Q8TC05	MDM1_HUMAN	V	208;203	ENSP00000302537:A208V;ENSP00000446000:A203V	.	A	-	2	0	MDM1	67005498	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.010000	0.64004	2.654000	0.90174	0.561000	0.74099	GCA		0.338	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	
KCNC2	3747	broad.mit.edu	37	12	75444575	75444575	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:75444575C>T	ENST00000549446.1	-	3	1890	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	KCNC2_ENST00000298972.1_Missense_Mutation_p.E404K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E404K|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.E404K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E404K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E404K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E404K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E404K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	404					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCCACTCTCTCGGCATAGTAG	0.448																																						uc001sxg.1																			0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1210-1212)GAG>AAG		Shaw-related voltage-gated potassium channel							72.0	68.0	70.0					12																	75444575		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444575C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1210G>A	12.37:g.75444575C>T	ENSP00000449253:p.Glu404Lys					KCNC2_uc009zry.2_Missense_Mutation_p.E404K|KCNC2_uc001sxe.2_Missense_Mutation_p.E404K|KCNC2_uc001sxf.2_Missense_Mutation_p.E404K|KCNC2_uc010stw.1_Missense_Mutation_p.E404K	p.E404K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1754	-			404					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1210G>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921690	0.92319	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99585	0.9850	H	0.98314	4.2	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	0.999;0.999;1.0;0.999;0.998	D	0.97855	1.0277	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	404;404;404;404;404	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	K	404	ENSP00000448301:E404K;ENSP00000449941:E404K;ENSP00000449253:E404K;ENSP00000340121:E404K;ENSP00000298972:E404K;ENSP00000319877:E404K;ENSP00000438423:E404K;ENSP00000376966:E404K	ENSP00000298972:E404K	E	-	1	0	KCNC2	73730842	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	GAG		0.448	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
RIMBP2	23504	broad.mit.edu	37	12	130927141	130927141	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:130927141G>A	ENST00000261655.4	-	8	868	c.705C>T	c.(703-705)aaC>aaT	p.N235N	RIMBP2_ENST00000536002.1_Silent_p.N143N|RIMBP2_ENST00000535703.1_Silent_p.N143N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	235					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCGCGACTCGTTGTCCTGCA	0.582																																						uc001uil.2																			0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(703-705)AAC>AAT		RIM-binding protein 2							121.0	121.0	121.0					12																	130927141		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927141G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.705C>T	12.37:g.130927141G>A						RIMBP2_uc001uim.2_Silent_p.N143N|RIMBP2_uc001uin.1_Translation_Start_Site	p.N235N	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	869	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	235					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.705C>T	CCDS31925.1																																																																																				0.582	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
EP400	57634	broad.mit.edu	37	12	132490816	132490816	+	Missense_Mutation	SNP	T	T	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:132490816T>G	ENST00000333577.4	+	15	3312	c.3203T>G	c.(3202-3204)cTg>cGg	p.L1068R	EP400_ENST00000389562.2_Missense_Mutation_p.L1031R|EP400_ENST00000332482.4_Missense_Mutation_p.L995R|EP400_ENST00000330386.6_Missense_Mutation_p.L1032R|EP400_ENST00000389561.2_Missense_Mutation_p.L1032R			Q96L91	EP400_HUMAN	E1A binding protein p400	1068	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGCCATCCTGCCGAAGGGC	0.542																																						uc001ujn.2																			0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(3094-3096)CTG>CGG		E1A binding protein p400							79.0	70.0	73.0					12																	132490816		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132490816T>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3203T>G	12.37:g.132490816T>G	ENSP00000333602:p.Leu1068Arg					EP400_uc001ujl.2_Missense_Mutation_p.L1031R|EP400_uc001ujm.2_Missense_Mutation_p.L1032R	p.L1032R	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	13	3130	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1068			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3095T>G		.	.	.	.	.	.	.	.	.	.	T	15.74	2.921795	0.52653	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	D	0.96703	0.8924	M	0.69823	2.125	0.39582	D	0.969448	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70716	0.97;0.97;0.97	D	0.97593	1.0118	10	0.62326	D	0.03	.	15.6057	0.76668	0.0:0.0:0.0:1.0	.	1032;1032;1031	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	R	1068;1032;1031;995;1032;1032;1032	ENSP00000333602:L1068R;ENSP00000374212:L1032R;ENSP00000374213:L1031R;ENSP00000331737:L995R;ENSP00000330620:L1032R	ENSP00000330620:L1032R	L	+	2	0	EP400	131056769	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.212000	0.77941	2.166000	0.68216	0.533000	0.62120	CTG		0.542	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
TSSK4	283629	broad.mit.edu	37	14	24675764	24675764	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:24675764T>C	ENST00000287913.6	+	2	443	c.275T>C	c.(274-276)aTt>aCt	p.I92T	TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron|TSSK4_ENST00000339917.5_Missense_Mutation_p.I92T|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.I16T			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TATCGGGCCATTGAGAGCACA	0.532																																						uc001wng.2																			0					0						c.(274-276)ATT>ACT		testis-specific serine kinase 4							173.0	147.0	156.0					14																	24675764		2203	4300	6503	SO:0001583	missense	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24675764T>C	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.275T>C	14.37:g.24675764T>C	ENSP00000287913:p.Ile92Thr					TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Missense_Mutation_p.I16T|TSSK4_uc001wnf.2_5'UTR|TSSK4_uc001wnh.2_Missense_Mutation_p.I92T	p.I92T	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	443	+			92			Protein kinase.		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	c.275T>C	CCDS9618.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108444	0.37242	.	.	ENSG00000139908	ENST00000339917;ENST00000556621;ENST00000287913	T;T;T	0.25250	1.81;1.81;1.81	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000123	T	0.27866	0.0686	M	0.63843	1.955	0.80722	D	1	B;B	0.29531	0.208;0.247	B;B	0.27715	0.049;0.082	T	0.10847	-1.0612	10	0.87932	D	0	.	12.2596	0.54642	0.0:0.0:0.0:1.0	.	92;92	Q6SA08-2;Q6SA08	.;TSSK4_HUMAN	T	92;16;92	ENSP00000339179:I92T;ENSP00000452054:I16T;ENSP00000287913:I92T	ENSP00000287913:I92T	I	+	2	0	TSSK4	23745604	0.975000	0.34042	0.996000	0.52242	0.973000	0.67179	2.414000	0.44627	2.087000	0.62958	0.379000	0.24179	ATT		0.532	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944	
LTBP2	4053	broad.mit.edu	37	14	74969471	74969471	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:74969471G>A	ENST00000261978.4	-	34	5441	c.5055C>T	c.(5053-5055)acC>acT	p.T1685T	LTBP2_ENST00000556690.1_Silent_p.T1641T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1685					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCTCAGGGACGGTGTCCTCGG	0.637																																						uc001xqa.2																			0				liver(1)|skin(1)	2						c.(5053-5055)ACC>ACT		latent transforming growth factor beta binding							84.0	84.0	84.0					14																	74969471		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969471G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5055C>T	14.37:g.74969471G>A							p.T1685T	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	34	5442	-			1685					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.5055C>T	CCDS9831.1																																																																																				0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
PROX2	283571	broad.mit.edu	37	14	75329549	75329549	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:75329549G>C	ENST00000445876.1	-	1	988	c.989C>G	c.(988-990)gCa>gGa	p.A330G	PROX2_ENST00000556489.2_Missense_Mutation_p.A330G|PROX2_ENST00000556084.2_Intron			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	330					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGAAAGTTTGCTGGGGGATC	0.502																																						uc001xqr.1																			0					0						c.(988-990)GCA>GGA		prospero homeobox 2							65.0	69.0	68.0					14																	75329549		1870	4113	5983	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329549G>C		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.989C>G	14.37:g.75329549G>C	ENSP00000405932:p.Ala330Gly					PROX2_uc001xqq.1_Intron	p.A330G	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	989	-			330					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.989C>G	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	1.160	-0.643972	0.03531	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.42900	0.96;0.96	5.16	0.933	0.19471	.	0.865996	0.09999	N	0.728762	T	0.22437	0.0541	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.23226	-1.0194	10	0.22706	T	0.39	2.6872	1.1395	0.01762	0.2143:0.3295:0.2876:0.1686	.	330	G3V3G0	.	G	330	ENSP00000451223:A330G;ENSP00000405932:A330G	ENSP00000374315:A330G	A	-	2	0	PROX2	74399302	0.832000	0.29368	0.007000	0.13788	0.142000	0.21351	1.921000	0.40035	0.320000	0.23234	-0.266000	0.10368	GCA		0.502	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
MESDC2	23184	broad.mit.edu	37	15	81282094	81282094	+	Silent	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr15:81282094C>A	ENST00000261758.4	-	1	125	c.39G>T	c.(37-39)ctG>ctT	p.L13L	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	13	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						AGGCACAAAGCAGGACCACGG	0.721																																						uc002bfy.1																			0					0						c.(37-39)CTG>CTT		mesoderm development candidate 2							20.0	19.0	19.0					15																	81282094		2198	4292	6490	SO:0001819	synonymous_variant	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282094C>A	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.39G>T	15.37:g.81282094C>A						MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	p.L13L	NM_015154	NP_055969	Q14696	MESD_HUMAN			1	112	-			13			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	c.39G>T	CCDS32308.1																																																																																				0.721	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154	
CPPED1	55313	broad.mit.edu	37	16	12875067	12875067	+	Silent	SNP	G	G	A	rs202024707		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:12875067G>A	ENST00000381774.4	-	2	504	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_ENST00000433677.2_Silent_p.C88C|CPPED1_ENST00000261660.4_Silent_p.C88C	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	88	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18749	0.0		0.0	False		,,,				2504	0.0					uc002dca.3																			0					0						c.(262-264)TGC>TGT		calcineurin-like phosphoesterase domain		G	,	1,4135		0,1,2067	90.0	97.0	94.0		264,264	-8.1	0.7	16		94	3,8423		0,3,4210	no	coding-synonymous,coding-synonymous	CPPED1	NM_001099455.1,NM_018340.2	,	0,4,6277	AA,AG,GG		0.0356,0.0242,0.0318	,	88/173,88/315	12875067	4,12558	2068	4213	6281	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12875067G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.264C>T	16.37:g.12875067G>A						CPPED1_uc002dcb.3_Silent_p.C88C	p.C88C	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			2	375	-			88					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.264C>T	CCDS42120.1																																																																																				0.532	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340	
CIRH1A	84916	broad.mit.edu	37	16	69201051	69201051	+	Missense_Mutation	SNP	G	G	A	rs34057086		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:69201051G>A	ENST00000314423.7	+	16	2084	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	CIRH1A_ENST00000563094.1_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.R521H			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	636					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATCCGGAGGCGCACAGCTCAT	0.348													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19379	0.0		0.0	False		,,,				2504	0.0				Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3																			0					0						c.(1906-1908)CGC>CAC		cirhin		G	HIS/ARG	14,4382	20.2+/-43.8	0,14,2184	112.0	115.0	114.0		1907	4.1	1.0	16	dbSNP_126	114	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CIRH1A	NM_032830.2	29	0,15,6483	AA,AG,GG		0.0116,0.3185,0.1154	benign	636/687	69201051	15,12981	2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69201051G>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1907G>A	16.37:g.69201051G>A	ENSP00000327179:p.Arg636His					CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.3_Missense_Mutation_p.R553H|CIRH1A_uc010cfi.2_Missense_Mutation_p.R438H	p.R636H	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	16	2003	+			636					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1907G>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870897	0.51695	0.003185	1.16E-4	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.39787	1.59;1.06	6.03	4.08	0.47627	.	0.439409	0.27691	N	0.018245	T	0.26048	0.0635	N	0.16478	0.41	0.80722	D	1	B	0.19073	0.033	B	0.08055	0.003	T	0.06570	-1.0819	10	0.45353	T	0.12	.	10.0951	0.42471	0.1592:0.0:0.8408:0.0	rs34057086	636	Q969X6	CIR1A_HUMAN	H	636;521	ENSP00000327179:R636H;ENSP00000339164:R521H	ENSP00000327179:R636H	R	+	2	0	CIRH1A	67758552	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.012000	0.49575	1.564000	0.49628	0.655000	0.94253	CGC		0.348	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830	
MYH2	4620	broad.mit.edu	37	17	10430055	10430055	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:10430055G>A	ENST00000245503.5	-	30	4432	c.4048C>T	c.(4048-4050)Cgg>Tgg	p.R1350W	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1350W	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1350					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACTGTTCCCGCAGCAGGTCA	0.547																																						uc010coi.2																			0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4048-4050)CGG>TGG		myosin heavy chain IIa							126.0	116.0	119.0					17																	10430055		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430055G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4048C>T	17.37:g.10430055G>A	ENSP00000245503:p.Arg1350Trp					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1350W|MYH2_uc010coj.2_Intron	p.R1350W	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			30	4176	-			1350			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4048C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221909	0.79464	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84730	-1.89;-1.89	5.35	3.19	0.36642	Myosin tail (1);	0.000000	0.35179	U	0.003387	D	0.94817	0.8326	H	0.97465	4.01	0.47862	D	0.999535	D	0.89917	1.0	D	0.97110	1.0	D	0.96487	0.9361	10	0.87932	D	0	.	14.3267	0.66526	0.0:0.0:0.6428:0.3572	.	1350	Q9UKX2	MYH2_HUMAN	W	1350	ENSP00000245503:R1350W;ENSP00000380367:R1350W	ENSP00000245503:R1350W	R	-	1	2	MYH2	10370780	0.372000	0.25064	1.000000	0.80357	0.999000	0.98932	0.671000	0.25172	1.436000	0.47453	0.655000	0.94253	CGG		0.547	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
JMJD6	23210	broad.mit.edu	37	17	74721588	74721588	+	Missense_Mutation	SNP	A	A	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:74721588A>G	ENST00000397625.4	-	2	593	c.479T>C	c.(478-480)cTt>cCt	p.L160P	METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.L160P|METTL23_ENST00000590964.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.L160P|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588822.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	160	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						ATACTGGAAAAGGTCATCAGT	0.393																																						uc002jso.2																			0				skin(2)|ovary(1)	3						c.(478-480)CTT>CCT		jumonji domain containing 6 isoform 2							83.0	81.0	82.0					17																	74721588		1858	4092	5950	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74721588A>G	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.479T>C	17.37:g.74721588A>G	ENSP00000380750:p.Leu160Pro					JMJD6_uc002jsn.1_Missense_Mutation_p.L160P|JMJD6_uc010dgz.2_Missense_Mutation_p.L160P|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	p.L160P	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN			2	803	-			160			JmjC.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.479T>C	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140873	0.77775	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.74947	-0.89;-0.89	5.66	5.66	0.87406	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	H	0.97158	3.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.93898	0.7186	10	0.87932	D	0	-2.5349	15.8956	0.79333	1.0:0.0:0.0:0.0	.	160;160;160	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	P	160	ENSP00000394085:L160P;ENSP00000380750:L160P	ENSP00000302916:L160P	L	-	2	0	JMJD6	72233183	1.000000	0.71417	0.978000	0.43139	0.713000	0.41058	9.325000	0.96381	2.144000	0.66660	0.459000	0.35465	CTT		0.393	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167	
PTPRM	5797	broad.mit.edu	37	18	7888281	7888281	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:7888281T>A	ENST00000332175.8	+	3	1411	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	PTPRM_ENST00000400060.4_Missense_Mutation_p.L125Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.L125Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.L63Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	125	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AACGGGCCACTGGGGAATCCT	0.453																																						uc002knn.3																			0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(373-375)CTG>CAG		protein tyrosine phosphatase, receptor type, M							82.0	82.0	82.0					18																	7888281		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888281T>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.374T>A	18.37:g.7888281T>A	ENSP00000331418:p.Leu125Gln					PTPRM_uc010dkv.2_Missense_Mutation_p.L125Q	p.L125Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN			3	877	+		Colorectal(10;0.234)	125			MAM.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.374T>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289388	0.40494	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02050	4.48;4.48;4.48	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.284632	0.35067	N	0.003466	T	0.02494	0.0076	N	0.21545	0.675	0.80722	D	1	B;B	0.18166	0.026;0.026	B;B	0.15052	0.012;0.012	T	0.60403	-0.7270	10	0.27082	T	0.32	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	125;125	A7MBN1;P28827	.;PTPRM_HUMAN	Q	125;125;63	ENSP00000331418:L125Q;ENSP00000382933:L125Q;ENSP00000382927:L63Q	ENSP00000331418:L125Q	L	+	2	0	PTPRM	7878281	1.000000	0.71417	0.918000	0.36340	0.973000	0.67179	3.331000	0.52075	2.326000	0.78906	0.533000	0.62120	CTG		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
CTAGE1	64693	broad.mit.edu	37	18	19997860	19997860	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:19997860G>A	ENST00000391403.2	-	0	18					NM_172241.2	NP_758441.2	Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGCTCCTCCGTAGCGCCAAG	0.587																																						uc002ktv.1																			0				ovary(1)	1						c.(-87--83)TACGG>TATGG		cutaneous T-cell lymphoma-associated antigen 1																																						64693					integral to membrane		g.chr18:19997860G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997860G>A								NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	19	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)							B0YIZ3	Translation_Start_Site	SNP	ENST00000391403.2	37	c.-85C>T	CCDS45837.1																																																																																				0.587	CTAGE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386768.3	NM_022663, NM_172241	
DCC	1630	broad.mit.edu	37	18	50734176	50734176	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:50734176C>G	ENST00000442544.2	+	11	2466	c.1850C>G	c.(1849-1851)aCa>aGa	p.T617R	DCC_ENST00000581580.1_Missense_Mutation_p.T272R|DCC_ENST00000412726.1_Missense_Mutation_p.T465R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	617	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTGGTTACACTTTCTGAC	0.338																																						uc002lfe.1																			0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1849-1851)ACA>AGA		netrin receptor DCC precursor							127.0	130.0	129.0					18																	50734176		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734176C>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1850C>G	18.37:g.50734176C>G	ENSP00000389140:p.Thr617Arg					DCC_uc010xdr.1_Missense_Mutation_p.T465R|DCC_uc010dpf.1_Missense_Mutation_p.T272R	p.T617R	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2437	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	617			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.1850C>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476291	0.44044	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.64991	-0.13;-0.13	5.83	5.83	0.93111	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	H	0.99299	4.505	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.93054	0.6468	10	0.87932	D	0	.	18.8898	0.92395	0.0:1.0:0.0:0.0	.	465;465;617	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	R	617;550;465	ENSP00000389140:T617R;ENSP00000397322:T465R	ENSP00000304146:T550R	T	+	2	0	DCC	48988174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.407000	0.73280	2.775000	0.95449	0.650000	0.86243	ACA		0.338	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
MUC16	94025	broad.mit.edu	37	19	9067947	9067947	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:9067947G>C	ENST00000397910.4	-	3	19702	c.19499C>G	c.(19498-19500)aCa>aGa	p.T6500R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6502	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						GGGTGGGCTTGTCCCTGATAT	0.468																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19498-19500)ACA>AGA		mucin 16							132.0	132.0	132.0					19																	9067947		1948	4140	6088	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067947G>C	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.19499C>G	19.37:g.9067947G>C	ENSP00000381008:p.Thr6500Arg						p.T6500R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19703	-			6502			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19499C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.531	-0.308532	0.05458	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.64	0.48	0.16804	.	.	.	.	.	T	0.19167	0.0460	L	0.38175	1.15	.	.	.	D	0.58268	0.982	P	0.44422	0.449	T	0.23976	-1.0173	8	0.87932	D	0	.	4.3844	0.11309	0.2198:0.0:0.7802:0.0	.	6500	B5ME49	.	R	6500	ENSP00000381008:T6500R	ENSP00000381008:T6500R	T	-	2	0	MUC16	8928947	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.004000	0.13106	0.240000	0.21263	0.177000	0.17058	ACA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
GAPDHS	26330	broad.mit.edu	37	19	36029512	36029512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:36029512C>T	ENST00000222286.4	+	4	492	c.376C>T	c.(376-378)Cga>Tga	p.R126*	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	126					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACCCACGGCCGATACAAGGG	0.522																																						uc002oaf.1																			0					0						c.(376-378)CGA>TGA		glyceraldehyde-3-phosphate dehydrogenase,	NADH(DB00157)						113.0	98.0	103.0					19																	36029512		2203	4300	6503	SO:0001587	stop_gained	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36029512C>T	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.376C>T	19.37:g.36029512C>T	ENSP00000222286:p.Arg126*						p.R126*	NM_014364	NP_055179	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	492	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		126					B2RC82|O60823|Q6JTT9|Q9HCU6	Nonsense_Mutation	SNP	ENST00000222286.4	37	c.376C>T	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	C	39	7.515486	0.98332	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.5	3.19	0.36642	.	0.141181	0.48286	D	0.000187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6222	12.5031	0.55966	0.4653:0.5347:0.0:0.0	.	.	.	.	X	126	.	ENSP00000222286:R126X	R	+	1	2	GAPDHS	40721352	0.818000	0.29161	0.369000	0.25952	0.975000	0.68041	3.288000	0.51739	0.460000	0.27045	0.655000	0.94253	CGA		0.522	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364	
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T	rs537471101		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:56539808C>T	ENST00000390649.3	+	7	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	737					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19546	0.0		0.0	False		,,,				2504	0.0					uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2209-2211)CGG>TGG		NACHT, LRR and PYD containing protein 5							151.0	151.0	151.0					19																	56539808		2010	4186	6196	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539808C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2209C>T	19.37:g.56539808C>T	ENSP00000375063:p.Arg737Trp					NLRP5_uc002qmi.2_Missense_Mutation_p.R718W	p.R737W	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2209	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	737			LRR 2.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2209C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355347	0.41700	.	.	ENSG00000171487	ENST00000390649	D	0.89681	-2.55	3.26	2.19	0.27852	.	0.000000	0.33438	N	0.004906	D	0.92074	0.7488	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83301	-0.0028	10	0.56958	D	0.05	.	7.7281	0.28771	0.2506:0.7494:0.0:0.0	.	737	P59047	NALP5_HUMAN	W	737	ENSP00000375063:R737W	ENSP00000375063:R737W	R	+	1	2	NLRP5	61231620	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	0.265000	0.18515	0.903000	0.36546	0.561000	0.74099	CGG		0.498	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
LOXL3	84695	broad.mit.edu	37	2	74779634	74779634	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:74779634C>T	ENST00000264094.3	-	2	199	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	LOXL3_ENST00000409549.1_Missense_Mutation_p.R43Q|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.R43Q|DOK1_ENST00000233668.5_5'Flank|LOXL3_ENST00000393937.2_Missense_Mutation_p.R43Q|DOK1_ENST00000340004.6_5'Flank|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409986.1_Missense_Mutation_p.R43Q	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	43					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CAGCCGGAACCGAAGCCCCTG	0.662																																						uc002smp.1																			0					0						c.(127-129)CGG>CAG		lysyl oxidase-like 3 precursor							20.0	22.0	22.0					2																	74779634		2184	4273	6457	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74779634C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.128G>A	2.37:g.74779634C>T	ENSP00000264094:p.Arg43Gln					LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.R43Q|LOXL3_uc002smq.1_Missense_Mutation_p.R43Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R43Q|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	p.R43Q	NM_032603	NP_115992	P58215	LOXL3_HUMAN			2	200	-			43					D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.128G>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894335	0.17613	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68	4.8	4.8	0.61643	Speract/scavenger receptor-related (1);	0.129197	0.49916	D	0.000121	T	0.12347	0.0300	L	0.27053	0.805	0.80722	D	1	P;B;B;P	0.48640	0.711;0.022;0.216;0.913	B;B;B;B	0.34038	0.04;0.003;0.022;0.174	T	0.11690	-1.0577	10	0.02654	T	1	.	13.2328	0.59953	0.0:1.0:0.0:0.0	.	43;43;43;43	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	Q	43	ENSP00000264094:R43Q;ENSP00000387103:R43Q;ENSP00000377512:R43Q;ENSP00000386696:R43Q;ENSP00000386545:R43Q;ENSP00000398260:R43Q	ENSP00000264094:R43Q	R	-	2	0	LOXL3	74633142	0.985000	0.35326	1.000000	0.80357	0.975000	0.68041	2.318000	0.43779	2.501000	0.84356	0.555000	0.69702	CGG		0.662	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
LONRF2	164832	broad.mit.edu	37	2	100916305	100916305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:100916305C>A	ENST00000393437.3	-	5	1780	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	LONRF2_ENST00000409647.1_Nonsense_Mutation_p.E138*	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	381							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTATCCTCTTCAAAGTGTAGA	0.413																																						uc002tal.3																			0				large_intestine(1)|skin(1)	2						c.(1141-1143)GAA>TAA		LON peptidase N-terminal domain and ring finger							71.0	68.0	69.0					2																	100916305		2203	4300	6503	SO:0001587	stop_gained	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916305C>A	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1141G>T	2.37:g.100916305C>A	ENSP00000377086:p.Glu381*					LONRF2_uc010yvs.1_RNA	p.E381*	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			5	1781	-			381					B9A006|Q6ZSR4	Nonsense_Mutation	SNP	ENST00000393437.3	37	c.1141G>T	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	43	10.507902	0.99418	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	.	.	.	4.17	2.34	0.29019	.	0.724109	0.13409	N	0.390022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-10.8787	9.7487	0.40462	0.0:0.868:0.0:0.132	.	.	.	.	X	381;138	.	ENSP00000377086:E381X	E	-	1	0	LONRF2	100282737	0.988000	0.35896	0.035000	0.18076	0.709000	0.40893	1.323000	0.33701	0.335000	0.23614	0.555000	0.69702	GAA		0.413	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461	
SLC20A1	6574	broad.mit.edu	37	2	113417335	113417335	+	Missense_Mutation	SNP	G	G	A	rs142437239		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:113417335G>A	ENST00000272542.3	+	8	2142	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	535					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TGGCAATGACGTAAGGTCAGT	0.458																																						uc002tib.2																			0				ovary(2)	2						c.(1603-1605)GTA>ATA		solute carrier family 20 (phosphate		G	ILE/VAL	0,4406		0,0,2203	97.0	91.0	93.0		1603	5.5	1.0	2	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC20A1	NM_005415.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	535/680	113417335	2,13004	2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417335G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1603G>A	2.37:g.113417335G>A	ENSP00000272542:p.Val535Ile					SLC20A1_uc002tic.1_Missense_Mutation_p.V347I	p.V535I	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			8	2049	+			535			Extracellular (Potential).		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1603G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580678	0.86748	0.0	2.33E-4	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.91237	-2.81	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.92792	0.6249	10	0.33940	T	0.23	-22.7763	16.8296	0.85940	0.0:0.0:1.0:0.0	.	535;535	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	I	535;347	ENSP00000272542:V535I	ENSP00000272542:V535I	V	+	1	0	SLC20A1	113133806	1.000000	0.71417	0.991000	0.47740	0.781000	0.44180	9.869000	0.99810	2.578000	0.87016	0.655000	0.94253	GTA		0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415	
LRP1B	53353	broad.mit.edu	37	2	141072536	141072536	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072536T>C	ENST00000389484.3	-	83	13744	c.12773A>G	c.(12772-12774)cAg>cGg	p.Q4258R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4258	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTCCATTCTGGCAGTAGTT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12772-12774)CAG>CGG		low density lipoprotein-related protein 1B							131.0	123.0	126.0					2																	141072536		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072536T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12773A>G	2.37:g.141072536T>C	ENSP00000374135:p.Gln4258Arg	TSP Lung(27;0.18)					p.Q4258R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13745	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4258			Extracellular (Potential).|EGF-like 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12773A>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.870|7.870	0.727912|0.727912	0.15507|0.15507	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.92752|.	-3.1|.	5.9|5.9	5.9|5.9	0.94986|0.94986	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.171316|.	0.38720|.	N|.	0.001593|.	T|T	0.31734|0.31734	0.0806|0.0806	N|N	0.16233|0.16233	0.39|0.39	0.30453|0.30453	N|N	0.77502|0.77502	P|.	0.38677|.	0.642|.	B|.	0.34418|.	0.182|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|5	0.11182|.	T|.	0.66|.	.|.	11.4189|11.4189	0.49969|0.49969	0.1347:0.0:0.0:0.8653|0.1347:0.0:0.0:0.8653	.|.	4258|.	Q9NZR2|.	LRP1B_HUMAN|.	R|G	4258;4196|490	ENSP00000374135:Q4258R|.	ENSP00000374135:Q4258R|.	Q|R	-|-	2|1	0|2	LRP1B|LRP1B	140789006|140789006	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.206000|2.206000	0.42779|0.42779	2.264000|2.264000	0.75181|0.75181	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141072633	141072633	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072633T>C	ENST00000389484.3	-	83	13647	c.12676A>G	c.(12676-12678)Aga>Gga	p.R4226G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4226	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAATGCATCTTCCTCCATTT	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12676-12678)AGA>GGA		low density lipoprotein-related protein 1B							127.0	115.0	119.0					2																	141072633		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072633T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12676A>G	2.37:g.141072633T>C	ENSP00000374135:p.Arg4226Gly	TSP Lung(27;0.18)					p.R4226G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13648	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4226			Extracellular (Potential).|EGF-like 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12676A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638982	0.47153	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.42513	0.97	6.06	2.17	0.27698	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.309553	0.28219	N	0.016142	T	0.32071	0.0817	L	0.44542	1.39	0.31664	N	0.645151	P	0.36282	0.546	B	0.32980	0.156	T	0.27331	-1.0077	10	0.23302	T	0.38	.	13.5519	0.61736	0.0:0.0:0.3684:0.6316	.	4226	Q9NZR2	LRP1B_HUMAN	G	4226;4164	ENSP00000374135:R4226G	ENSP00000374135:R4226G	R	-	1	2	LRP1B	140789103	0.998000	0.40836	0.989000	0.46669	0.990000	0.78478	2.608000	0.46308	0.130000	0.18549	0.533000	0.62120	AGA		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141092130	141092130	+	Splice_Site	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141092130T>C	ENST00000389484.3	-	79	13088		c.e79-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACATCATCCTGAAGAGAGCG	0.483										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.e79-1		low density lipoprotein-related protein 1B							120.0	108.0	112.0					2																	141092130		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092130T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12117-2A>G	2.37:g.141092130T>C		TSP Lung(27;0.18)					p.G4039_splice	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13089	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.12117_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929109	0.73327	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000437977	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3246	0.82970	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140808600	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	7.575000	0.82447	2.333000	0.79357	0.482000	0.46254	.		0.483	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron
TMC2	117532	broad.mit.edu	37	20	2539347	2539347	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:2539347C>T	ENST00000358864.1	+	3	343	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	110	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCCAGGAGCGGACAGCAGC	0.622																																						uc002wgf.1																			0				ovary(3)	3						c.(328-330)CGG>TGG		transmembrane cochlear-expressed protein 2							25.0	25.0	25.0					20																	2539347		2197	4298	6495	SO:0001583	missense	117532					integral to membrane		g.chr20:2539347C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.328C>T	20.37:g.2539347C>T	ENSP00000351732:p.Arg110Trp					TMC2_uc002wgg.1_Missense_Mutation_p.R94W|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	p.R110W	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			3	343	+			110			Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.328C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299217	0.23650	.	.	ENSG00000149488	ENST00000358864	T	0.51325	0.71	4.59	3.61	0.41365	.	0.640244	0.15809	N	0.243578	T	0.29190	0.0726	N	0.19112	0.55	0.21220	N	0.999752	P;P	0.51653	0.947;0.74	B;B	0.36959	0.237;0.109	T	0.10636	-1.0621	10	0.66056	D	0.02	-5.4321	10.3106	0.43706	0.1978:0.8022:0.0:0.0	.	110;110	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	W	110	ENSP00000351732:R110W	ENSP00000351732:R110W	R	+	1	2	TMC2	2487347	0.939000	0.31865	0.708000	0.30435	0.012000	0.07955	1.324000	0.33712	1.185000	0.42971	0.555000	0.69702	CGG		0.622	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
OSER1	51526	broad.mit.edu	37	20	42826177	42826177	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:42826177C>T	ENST00000372970.2	-	6	574	c.394G>A	c.(394-396)Gga>Aga	p.G132R	OSER1_ENST00000255174.2_Missense_Mutation_p.G132R			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	132					cellular response to hydrogen peroxide (GO:0070301)												GAGCTTTCTCCTGCACTGAAC	0.498																																						uc002xlk.2																			0					0						c.(394-396)GGA>AGA		oxidative stress responsive 1							106.0	105.0	105.0					20																	42826177		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42826177C>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.394G>A	20.37:g.42826177C>T	ENSP00000362061:p.Gly132Arg						p.G132R	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	531	-		Myeloproliferative disorder(115;0.028)	132					B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.394G>A	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408295	0.25378	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.40225	1.04;1.04	5.58	3.27	0.37495	.	0.773311	0.12561	N	0.458193	T	0.20414	0.0491	N	0.08118	0	0.20074	N	0.999936	B	0.15930	0.015	B	0.15052	0.012	T	0.08659	-1.0711	10	0.44086	T	0.13	-8.7699	3.7441	0.08541	0.0:0.4984:0.2162:0.2854	.	132	Q9NX31	CT111_HUMAN	R	132	ENSP00000255174:G132R;ENSP00000362061:G132R	ENSP00000255174:G132R	G	-	1	0	C20orf111	42259591	0.002000	0.14202	0.956000	0.39512	0.982000	0.71751	0.367000	0.20382	1.489000	0.48450	0.591000	0.81541	GGA		0.498	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470	
PCK1	5105	broad.mit.edu	37	20	56138743	56138743	+	Silent	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:56138743C>T	ENST00000319441.4	+	6	1085	c.921C>T	c.(919-921)tgC>tgT	p.C307C	PCK1_ENST00000535860.1_Silent_p.C175C|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	307					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGGTTGAGTGCGTCGGGGATG	0.567																																						uc002xyn.3																			0				skin(1)	1						c.(919-921)TGC>TGT		cytosolic phosphoenolpyruvate carboxykinase 1							129.0	115.0	120.0					20																	56138743		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138743C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.921C>T	20.37:g.56138743C>T						PCK1_uc010zzm.1_Intron	p.C307C	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		6	1084	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		307					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.921C>T	CCDS13460.1																																																																																				0.567	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		
C2CD2	25966	broad.mit.edu	37	21	43327136	43327136	+	Missense_Mutation	SNP	C	C	T	rs571197268		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43327136C>T	ENST00000380486.3	-	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	C2CD2_ENST00000329623.7_Missense_Mutation_p.R273H	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	428						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CACGTCGACGCGAGGCTTGGT	0.592																																						uc002yzw.2																			0				ovary(1)	1						c.(1282-1284)CGC>CAC		C2 calcium-dependent domain containing 2 isoform							86.0	73.0	78.0					21																	43327136		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43327136C>T	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1283G>A	21.37:g.43327136C>T	ENSP00000369853:p.Arg428His					C2CD2_uc002yzt.2_Missense_Mutation_p.R44H|C2CD2_uc002yzu.2_Missense_Mutation_p.R260H|C2CD2_uc002yzv.2_Missense_Mutation_p.R273H|C2CD2_uc002yzx.1_Missense_Mutation_p.R273H	p.R428H	NM_015500	NP_056315	Q9Y426	CU025_HUMAN			10	1525	-			428					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.1283G>A	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256072	0.59321	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.29917	1.55;1.55	4.9	4.0	0.46444	.	0.182021	0.49916	D	0.000136	T	0.44244	0.1284	M	0.71581	2.175	0.31137	N	0.707058	D;D	0.76494	0.996;0.999	P;P	0.59221	0.642;0.854	T	0.52442	-0.8575	10	0.66056	D	0.02	-22.7842	6.385	0.21556	0.1567:0.6864:0.0:0.1568	.	273;428	Q6P6D1;Q9Y426	.;CU025_HUMAN	H	273;428	ENSP00000329302:R273H;ENSP00000369853:R428H	ENSP00000329302:R273H	R	-	2	0	C2CD2	42200205	0.979000	0.34478	0.931000	0.37212	0.443000	0.32047	2.502000	0.45398	2.413000	0.81919	0.655000	0.94253	CGC		0.592	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500	
ABCG1	9619	broad.mit.edu	37	21	43711761	43711761	+	Silent	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43711761C>T	ENST00000361802.2	+	13	1829	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	ABCG1_ENST00000340588.4_Silent_p.L670L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.L552L|ABCG1_ENST00000347800.2_Silent_p.L547L|ABCG1_ENST00000343687.3_Silent_p.L561L|ABCG1_ENST00000398449.3_Silent_p.L550L|ABCG1_ENST00000398437.1_Silent_p.L708L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	562	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CTCCACGTCCCTGCAGGTGCC	0.677																																						uc002zaq.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1684-1686)CTG>TTG		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						28.0	25.0	26.0					21																	43711761		2203	4298	6501	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43711761C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1684C>T	21.37:g.43711761C>T						ABCG1_uc002zan.2_Silent_p.L552L|ABCG1_uc002zam.2_Silent_p.L528L|ABCG1_uc002zao.2_Silent_p.L547L|ABCG1_uc002zap.2_Silent_p.L550L|ABCG1_uc002zar.2_Silent_p.L561L|ABCG1_uc011aev.1_Silent_p.L573L|ABCG1_uc010gpb.1_Missense_Mutation_p.P202L	p.L562L	NM_004915	NP_004906	P45844	ABCG1_HUMAN			13	1790	+			562			ABC transmembrane type-2.|Cytoplasmic (Potential).		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.1684C>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	8.542	0.873384	0.17322	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.12	1.78	0.24846	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49943	-0.8885	4	.	.	.	-18.5396	7.9122	0.29798	0.0:0.6754:0.0:0.3246	.	.	.	.	L	297;285;285	.	.	P	+	2	0	ABCG1	42584830	0.953000	0.32496	0.998000	0.56505	0.918000	0.54935	1.931000	0.40134	0.840000	0.34995	0.591000	0.81541	CCT		0.677	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	
ITGB2	3689	broad.mit.edu	37	21	46320283	46320283	+	Silent	SNP	G	G	A	rs35013643	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320283G>A	ENST00000397850.2	-	8	1301	c.849C>T	c.(847-849)gaC>gaT	p.D283D	ITGB2_ENST00000302347.5_Silent_p.D283D|ITGB2_ENST00000355153.4_Silent_p.D283D|ITGB2_ENST00000397854.3_Silent_p.D226D|ITGB2_ENST00000397857.1_Silent_p.D283D|ITGB2_ENST00000397852.1_Silent_p.D283D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	283	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GACAGCGGCCGTCGTTGGGGG	0.642													G|||	3	0.000599042	0.0	0.0	5008	,	,		17479	0.003		0.0	False		,,,				2504	0.0					uc002zgd.2																			0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(847-849)GAC>GAT		integrin, beta 2 precursor	Simvastatin(DB00641)						111.0	91.0	98.0					21																	46320283		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320283G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.849C>T	21.37:g.46320283G>A						ITGB2_uc002zge.2_Silent_p.D283D|ITGB2_uc002zgf.3_Silent_p.D283D|ITGB2_uc011afl.1_Silent_p.D205D|ITGB2_uc010gpw.2_Silent_p.D226D|ITGB2_uc002zgg.2_Silent_p.D283D	p.D283D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	893	-			283			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.849C>T	CCDS13716.1																																																																																				0.642	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	
ITGB2	3689	broad.mit.edu	37	21	46320342	46320342	+	Missense_Mutation	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320342C>A	ENST00000397850.2	-	8	1242	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	ITGB2_ENST00000302347.5_Missense_Mutation_p.D264Y|ITGB2_ENST00000355153.4_Missense_Mutation_p.D264Y|ITGB2_ENST00000397854.3_Missense_Mutation_p.D207Y|ITGB2_ENST00000397857.1_Missense_Mutation_p.D264Y|ITGB2_ENST00000397852.1_Missense_Mutation_p.D264Y			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	264	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AAGCCGTCATCAGTGGCAAAC	0.627																																						uc002zgd.2																			0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(790-792)GAT>TAT		integrin, beta 2 precursor	Simvastatin(DB00641)						83.0	75.0	77.0					21																	46320342		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320342C>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.790G>T	21.37:g.46320342C>A	ENSP00000380948:p.Asp264Tyr					ITGB2_uc002zge.2_Missense_Mutation_p.D264Y|ITGB2_uc002zgf.3_Missense_Mutation_p.D264Y|ITGB2_uc011afl.1_Missense_Mutation_p.D186Y|ITGB2_uc010gpw.2_Missense_Mutation_p.D207Y|ITGB2_uc002zgg.2_Missense_Mutation_p.D264Y	p.D264Y	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	834	-			264			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.790G>T	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295480	0.60086	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	4.98	4.98	0.66077	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.99606	0.9857	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97755	1.0217	9	0.87932	D	0	.	15.7916	0.78369	0.0:1.0:0.0:0.0	.	207;264	A8MYE6;P05107	.;ITB2_HUMAN	Y	264;264;207;264;264;264;207;255	ENSP00000380950:D264Y;ENSP00000380955:D264Y;ENSP00000380952:D207Y;ENSP00000347279:D264Y;ENSP00000380948:D264Y;ENSP00000303242:D264Y;ENSP00000317697:D255Y	ENSP00000303242:D264Y	D	-	1	0	ITGB2	45144770	1.000000	0.71417	0.066000	0.19879	0.056000	0.15407	7.143000	0.77348	2.593000	0.87608	0.655000	0.94253	GAT		0.627	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	
INPP5J	27124	broad.mit.edu	37	22	31523945	31523945	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:31523945T>A	ENST00000331075.5	+	7	1845	c.1796T>A	c.(1795-1797)tTc>tAc	p.F599Y	INPP5J_ENST00000402238.1_De_novo_Start_OutOfFrame|INPP5J_ENST00000401755.1_De_novo_Start_OutOfFrame|INPP5J_ENST00000404390.3_Missense_Mutation_p.F231Y|INPP5J_ENST00000405300.1_Missense_Mutation_p.F232Y|INPP5J_ENST00000412277.2_Missense_Mutation_p.F532Y|INPP5J_ENST00000404453.1_De_novo_Start_OutOfFrame|INPP5J_ENST00000400294.2_Missense_Mutation_p.F232Y	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	599	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGCCTCGTGTTCTGGTTCGGG	0.577																																						uc003aju.3																			0				skin(1)	1						c.(1795-1797)TTC>TAC		phosphatidylinositol (4,5) bisphosphate							45.0	43.0	44.0					22																	31523945		1907	4116	6023	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31523945T>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1796T>A	22.37:g.31523945T>A	ENSP00000333262:p.Phe599Tyr					INPP5J_uc003ajv.3_Missense_Mutation_p.F232Y|INPP5J_uc003ajs.3_Missense_Mutation_p.F232Y|INPP5J_uc011alk.1_Missense_Mutation_p.F532Y|INPP5J_uc010gwg.2_Missense_Mutation_p.F164Y|INPP5J_uc003ajw.2_Missense_Mutation_p.F35Y|INPP5J_uc003ajt.3_Missense_Mutation_p.F231Y|INPP5J_uc003ajx.2_5'UTR|INPP5J_uc003ajy.2_5'UTR|INPP5J_uc003ajz.2_5'UTR	p.F599Y	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			7	1888	+			599			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1796T>A		.	.	.	.	.	.	.	.	.	.	T	18.71	3.681428	0.68042	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8	4.55	3.51	0.40186	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.057444	0.64402	D	0.000001	D	0.97692	0.9243	M	0.89715	3.055	0.48830	D	0.999717	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.991	D	0.97379	0.9981	10	0.87932	D	0	.	10.3529	0.43948	0.0:0.0788:0.0:0.9212	.	532;599;231	B4DF95;Q15735;Q15735-3	.;PI5PA_HUMAN;.	Y	599;532;232;232;231	ENSP00000333262:F599Y;ENSP00000392924:F532Y;ENSP00000383150:F232Y;ENSP00000384596:F232Y;ENSP00000384534:F231Y	ENSP00000333262:F599Y	F	+	2	0	INPP5J	29853945	1.000000	0.71417	0.957000	0.39632	0.535000	0.34838	7.619000	0.83057	0.689000	0.31550	0.533000	0.62120	TTC		0.577	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837	
DEPDC5	9681	broad.mit.edu	37	22	32239728	32239728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:32239728G>T	ENST00000382112.3	+	28	2774	c.2704G>T	c.(2704-2706)Gaa>Taa	p.E902*	DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.E833*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.E911*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.E911*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.E911*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.E902*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.E833*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.E902*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	911					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTCCCACGAACGGCTGGA	0.498																																						uc003als.2																			0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(2704-2706)GAA>TAA		DEP domain containing 5 isoform 1							92.0	88.0	90.0					22																	32239728		1883	4111	5994	SO:0001587	stop_gained	9681				intracellular signal transduction			g.chr22:32239728G>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2704G>T	22.37:g.32239728G>T	ENSP00000371546:p.Glu902*					DEPDC5_uc011als.1_Nonsense_Mutation_p.E833*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.E911*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.E902*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.E351*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Nonsense_Mutation_p.E232*|DEPDC5_uc003alw.2_Nonsense_Mutation_p.E200*|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	p.E902*	NM_014662	NP_055477	O75140	DEPD5_HUMAN			29	2846	+			902					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	c.2704G>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.139168|8.139168	0.98672|0.98672	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	.|.	.|.	.|.	5.91|5.91	4.91|4.91	0.64330|0.64330	.|.	0.050413|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70159	.|0.3192	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69621	.|-0.5096	.|4	0.52906|.	T|.	0.07|.	.|.	14.144|14.144	0.65339|0.65339	0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0	.|.	.|.	.|.	.|.	X|L	833;911;902;833;911;833;902;911;902|308	.|.	ENSP00000266091:E911X|.	E|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30569728|30569728	1.000000|1.000000	0.71417|0.71417	0.805000|0.805000	0.32314|0.32314	0.988000|0.988000	0.76386|0.76386	8.793000|8.793000	0.91862|0.91862	1.525000|1.525000	0.49052|0.49052	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
CHL1	10752	broad.mit.edu	37	3	439999	439999	+	Missense_Mutation	SNP	C	C	T	rs555557287		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:439999C>T	ENST00000256509.2	+	25	3826	c.3184C>T	c.(3184-3186)Cgc>Tgc	p.R1062C	CHL1_ENST00000397491.2_Missense_Mutation_p.R1046C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACATATAGTTCGCCTAATGAC	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		16635	0.001		0.0	False		,,,				2504	0.0					uc003bou.2																			0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(3136-3138)CGC>TGC		cell adhesion molecule with homology to L1CAM							82.0	80.0	80.0					3																	439999		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:439999C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3184C>T	3.37:g.439999C>T	ENSP00000256509:p.Arg1062Cys					CHL1_uc003bot.2_Missense_Mutation_p.R1062C|CHL1_uc003bow.1_Missense_Mutation_p.R1046C|CHL1_uc011asi.1_Intron	p.R1046C	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	24	3407	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1046			Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3136C>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761187	0.69763	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.62232	0.04;0.06	5.72	5.72	0.89469	.	0.399817	0.28016	N	0.016923	T	0.67785	0.2930	N	0.24115	0.695	0.58432	D	0.999996	B;D	0.89917	0.098;1.0	B;D	0.66084	0.016;0.941	T	0.68123	-0.5492	10	0.45353	T	0.12	.	18.0416	0.89320	0.0:1.0:0.0:0.0	.	1046;1062	O00533;O00533-2	CHL1_HUMAN;.	C	1062;1046	ENSP00000256509:R1062C;ENSP00000380628:R1046C	ENSP00000256509:R1062C	R	+	1	0	CHL1	414999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.858000	0.62947	2.711000	0.92665	0.650000	0.86243	CGC		0.388	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
NEK10	152110	broad.mit.edu	37	3	27233555	27233555	+	Missense_Mutation	SNP	C	C	T	rs374938616		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:27233555C>T	ENST00000429845.2	-	27	2832	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I	NEK10_ENST00000383771.4_Missense_Mutation_p.V136I|NEK10_ENST00000383770.3_Missense_Mutation_p.V136I|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000295720.6_Missense_Mutation_p.V136I|NEK10_ENST00000357467.2_Missense_Mutation_p.V221I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	824					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGACATGTGACGGTGTTCCGG	0.438																																						uc010hfk.2																			0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(406-408)GTC>ATC		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;		C		1,4405	2.1+/-5.4	0,1,2202	262.0	224.0	237.0			5.0	0.8	3		237	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154			27233555	2,13004	2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27233555C>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2470G>A	3.37:g.27233555C>T	ENSP00000395849:p.Val824Ile					NEK10_uc003cds.1_Missense_Mutation_p.V221I|NEK10_uc010hfj.2_Missense_Mutation_p.V136I	p.V136I			Q6ZWH5	NEK10_HUMAN			5	635	-			824					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.406G>A		.	.	.	.	.	.	.	.	.	.	C	7.003	0.555350	0.13436	2.27E-4	1.16E-4	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.73789	2.79;2.86;3.05;-0.78	5.91	5.04	0.67666	.	.	.	.	.	T	0.62829	0.2460	.	.	.	0.25018	N	0.991351	B;B;B	0.20550	0.046;0.021;0.013	B;B;B	0.13407	0.009;0.004;0.002	T	0.47686	-0.9098	8	0.20519	T	0.43	.	15.0244	0.71656	0.0:0.9316:0.0:0.0684	.	136;136;221	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	I	136;136;136;221	ENSP00000295720:V136I;ENSP00000373281:V136I;ENSP00000373280:V136I;ENSP00000350059:V221I	ENSP00000295720:V136I	V	-	1	0	NEK10	27208559	0.777000	0.28628	0.841000	0.33234	0.204000	0.24138	1.954000	0.40362	1.513000	0.48852	-0.126000	0.14955	GTC		0.438	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	
SCN11A	11280	broad.mit.edu	37	3	38951639	38951639	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:38951639G>A	ENST00000302328.3	-	8	1217	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M	SCN11A_ENST00000456224.3_Missense_Mutation_p.T340M|SCN11A_ENST00000450244.1_Missense_Mutation_p.T340M|SCN11A_ENST00000444237.2_Missense_Mutation_p.T340M|AC116038.1_ENST00000401122.1_RNA	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	340					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCAAAATTCGTATAATTATA	0.363																																						uc011ays.1																			0		p.T340T(1)		skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(1018-1020)ACG>ATG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						108.0	99.0	102.0					3																	38951639		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38951639G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1019C>T	3.37:g.38951639G>A	ENSP00000307599:p.Thr340Met						p.T340M	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	8	1218	-			340			I.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1019C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143056	0.77888	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.24	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99001	0.9659	M	0.81341	2.54	0.45662	D	0.998585	D	0.89917	1.0	D	0.97110	1.0	D	0.99643	1.0989	10	0.87932	D	0	.	13.7993	0.63190	0.0741:0.0:0.9259:0.0	.	340	Q9UI33	SCNBA_HUMAN	M	340	ENSP00000307599:T340M;ENSP00000400945:T340M;ENSP00000416757:T340M;ENSP00000408028:T340M	ENSP00000307599:T340M	T	-	2	0	SCN11A	38926643	1.000000	0.71417	0.276000	0.24689	0.909000	0.53808	9.869000	0.99810	1.216000	0.43427	0.557000	0.71058	ACG		0.363	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
COL6A5	256076	broad.mit.edu	37	3	130187963	130187963	+	Missense_Mutation	SNP	A	A	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:130187963A>T	ENST00000432398.2	+	38	7609	c.7115A>T	c.(7114-7116)cAt>cTt	p.H2372L	COL6A5_ENST00000265379.6_Missense_Mutation_p.H2372L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2372	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAAATGAAACATCATCTCCAA	0.428																																						uc010htj.1																			0					0						c.(7114-7116)CAT>CTT		collagen, type XXIX, alpha 1							91.0	82.0	85.0					3																	130187963		1908	4125	6033	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130187963A>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7115A>T	3.37:g.130187963A>T	ENSP00000390895:p.His2372Leu					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.H411L	p.H2372L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			38	7609	+			2372			VWFA 10.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7115A>T		.	.	.	.	.	.	.	.	.	.	A	2.232	-0.375821	0.05034	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.35	-3.43	0.04810	von Willebrand factor, type A (3);	1.122770	0.06780	N	0.785124	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	P;B	0.36183	0.542;0.108	B;B	0.38755	0.281;0.089	T	0.39542	-0.9609	10	0.37606	T	0.19	.	11.5921	0.50951	0.3645:0.0:0.6355:0.0	.	2372;2372	A8TX70;A8TX70-2	CO6A5_HUMAN;.	L	2372;2372;315;207	ENSP00000390895:H2372L;ENSP00000265379:H2372L;ENSP00000362250:H315L;ENSP00000424968:H207L	ENSP00000265379:H2372L	H	+	2	0	COL6A5	131670653	0.000000	0.05858	0.305000	0.25099	0.042000	0.13812	-0.007000	0.12810	-0.522000	0.06417	-0.912000	0.02778	CAT		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
PLSCR1	5359	broad.mit.edu	37	3	146239654	146239654	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:146239654C>T	ENST00000342435.4	-	6	952	c.542G>A	c.(541-543)tGt>tAt	p.C181Y	PLSCR1_ENST00000487389.1_Missense_Mutation_p.C174Y|PLSCR1_ENST00000448787.2_Missense_Mutation_p.C100Y|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	181	Cys-rich.				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACAGCTGCTACATCTTAGTGG	0.438																																						uc003evx.3																			0				ovary(2)	2						c.(541-543)TGT>TAT		phospholipid scramblase 1							90.0	94.0	93.0					3																	146239654		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146239654C>T	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.542G>A	3.37:g.146239654C>T	ENSP00000345494:p.Cys181Tyr					PLSCR1_uc003evy.3_Missense_Mutation_p.C174Y|PLSCR1_uc011bnn.1_Missense_Mutation_p.C100Y|PLSCR1_uc003evz.3_Intron	p.C181Y	NM_021105	NP_066928	O15162	PLS1_HUMAN			6	930	-			181			Cytoplasmic.|Cys-rich.		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.542G>A	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.375658	0.42105	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666;ENST00000486631;ENST00000472349	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.45	4.57	0.56435	.	.	.	.	.	T	0.62877	0.2464	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75777	-0.3198	9	0.87932	D	0	.	15.6175	0.76778	0.1387:0.8613:0.0:0.0	.	100;181	B4DTE8;O15162	.;PLS1_HUMAN	Y	181;174;100;157;100;181	ENSP00000345494:C181Y;ENSP00000417792:C174Y;ENSP00000411675:C100Y;ENSP00000418103:C157Y;ENSP00000418550:C100Y;ENSP00000420523:C181Y	ENSP00000345494:C181Y	C	-	2	0	PLSCR1	147722344	1.000000	0.71417	0.028000	0.17463	0.011000	0.07611	7.445000	0.80570	1.285000	0.44548	0.655000	0.94253	TGT		0.438	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105	
SI	6476	broad.mit.edu	37	3	164700076	164700076	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:164700076G>A	ENST00000264382.3	-	47	5432	c.5370C>T	c.(5368-5370)aaC>aaT	p.N1790N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1790	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.N1790N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTTTATTTCCGTTATACGTTA	0.348										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - coding silent(1)		endometrium(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(5368-5370)AAC>AAT		sucrase-isomaltase	Acarbose(DB00284)						119.0	114.0	116.0					3																	164700076		2202	4299	6501	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164700076G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5370C>T	3.37:g.164700076G>A		HNSCC(35;0.089)					p.N1790N	NM_001041	NP_001032	P14410	SUIS_HUMAN			47	5432	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1790			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.5370C>T	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
PIK3CA	5290	broad.mit.edu	37	3	178916851	178916853	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:178916851_178916853delGAA	ENST00000263967.3	+	2	395_397	c.238_240delGAA	c.(238-240)gaadel	p.E81del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E80K(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGCAGAAAGGGAAGAATTTTTTG	0.365		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1	Substitution - Missense(1)	p.E81K(2)	breast(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(238-240)GAAdel		phosphoinositide-3-kinase, catalytic, alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916851_178916853delGAA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.238_240delGAA	3.37:g.178916854_178916856delGAA	ENSP00000263967:p.Glu81del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E81del	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	395_397	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		81			PI3K-ABD.		Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.238_240delGAA	CCDS43171.1																																																																																				0.365	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
TMEM207	131920	broad.mit.edu	37	3	190147491	190147491	+	Missense_Mutation	SNP	C	C	G	rs369868488		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:190147491C>G	ENST00000354905.2	-	5	400	c.334G>C	c.(334-336)Gga>Cga	p.G112R		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	112						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGGTGAATTCCAACAGTTGGA	0.428																																						uc003fsj.2																			0					0						c.(334-336)GGA>CGA		transmembrane protein 207 precursor							141.0	133.0	135.0					3																	190147491		2203	4300	6503	SO:0001583	missense	131920					integral to membrane		g.chr3:190147491C>G	BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.334G>C	3.37:g.190147491C>G	ENSP00000346981:p.Gly112Arg						p.G112R	NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)	5	401	-	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		112						Missense_Mutation	SNP	ENST00000354905.2	37	c.334G>C	CCDS3297.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.083120	0.20309	.	.	ENSG00000198398	ENST00000354905	T	0.42900	0.96	5.1	2.25	0.28309	.	0.335475	0.21546	N	0.072803	T	0.33962	0.0881	L	0.47716	1.5	0.28441	N	0.916827	P	0.49253	0.921	P	0.45138	0.471	T	0.24905	-1.0147	10	0.54805	T	0.06	-1.7175	3.7172	0.08442	0.1968:0.6056:0.0:0.1976	.	112	Q6UWW9	TM207_HUMAN	R	112	ENSP00000346981:G112R	ENSP00000346981:G112R	G	-	1	0	TMEM207	191630185	0.841000	0.29509	0.991000	0.47740	0.498000	0.33706	0.703000	0.25646	0.781000	0.33589	0.655000	0.94253	GGA		0.428	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343515.1	NM_207316	
CPEB2	132864	broad.mit.edu	37	4	15005738	15005739	+	In_Frame_Ins	INS	-	-	GCG	rs376035407|rs534266090	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:15005738_15005739insGCG	ENST00000507071.1	+	1	217_218	c.130_131insGCG	c.(130-132)agc>aGCGgc	p.50_51insG	CPEB2_ENST00000442003.2_In_Frame_Ins_p.487_488insG|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000382401.3_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000538197.1_In_Frame_Ins_p.487_488insG|CPEB2_ENST00000345451.3_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000541112.1_In_Frame_Ins_p.487_488insG|CPEB2_ENST00000259997.5_In_Frame_Ins_p.50_51insG|RP11-665G4.1_ENST00000502344.1_RNA			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	50	Pro-rich.			G -> GG (in Ref. 2; AAI03942). {ECO:0000305}.	cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CGTTCCGACGAgcggcggcggc	0.728														247	0.0493211	0.0204	0.0159	5008	,	,		6128	0.0278		0.0348	False		,,,				2504	0.1493					uc003gni.1																			0				skin(1)	1						c.(130-132)AGC>AGCGGC		cytoplasmic polyadenylation element binding																																				SO:0001652	inframe_insertion	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15005738_15005739insGCG	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.146_148dupGCG	4.37:g.15005745_15005747dupGCG	ENSP00000424084:p.Gly52_Gly53dup					uc003gng.3_5'Flank|uc003gnh.1_5'Flank|CPEB2_uc003gnj.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnk.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnl.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnm.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnn.1_In_Frame_Ins_p.50_51insG	p.50_51insG	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN			1	217_218	+			50_51			Pro-rich.		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	In_Frame_Ins	INS	ENST00000507071.1	37	c.130_131insGCG																																																																																					0.728	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607	
CCDC158	339965	broad.mit.edu	37	4	77305567	77305567	+	Splice_Site	SNP	G	G	A	rs372875892		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:77305567G>A	ENST00000388914.3	-	5	552	c.400C>T	c.(400-402)Cga>Tga	p.R134*	CCDC158_ENST00000434846.2_Splice_Site_p.R134*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	134										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTCTCCCTTCGTCTATGAAAT	0.313																																						uc003hkb.3																			0				skin(3)|ovary(2)|pancreas(1)	6						c.(400-402)CGA>TGA		coiled-coil domain containing 158							56.0	50.0	52.0					4																	77305567		1823	4076	5899	SO:0001630	splice_region_variant	339965							g.chr4:77305567G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.399-1C>T	4.37:g.77305567G>A						CCDC158_uc003hkd.2_Nonsense_Mutation_p.R134*	p.R134*	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			5	553	-			134			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	ENST00000388914.3	37	c.400C>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164570	0.78339	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	.	.	.	5.72	4.83	0.62350	.	0.000000	0.46442	D	0.000300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7613	0.57365	0.0:0.0:0.836:0.164	.	.	.	.	X	134	.	ENSP00000316815:R134X	R	-	1	2	CCDC158	77524591	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.361000	0.59461	2.711000	0.92665	0.655000	0.94253	CGA		0.313	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	Nonsense_Mutation
MROH2B	133558	broad.mit.edu	37	5	41051102	41051102	+	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:41051102G>T	ENST00000399564.4	-	13	1771	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	441																	ATGACCAGTGGGTCCAGGGTT	0.408																																						uc003jmj.3																			0				ovary(6)|central_nervous_system(2)	8						c.(1321-1323)CCA>ACA		HEAT repeat family member 7B2							86.0	87.0	87.0					5																	41051102		1861	4088	5949	SO:0001583	missense	133558						binding	g.chr5:41051102G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1321C>A	5.37:g.41051102G>T	ENSP00000382476:p.Pro441Thr					HEATR7B2_uc003jmi.3_5'UTR	p.P441T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			13	1811	-			441			HEAT 5.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1321C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757364	0.49468	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.04758	3.56	5.36	5.36	0.76844	Armadillo-type fold (1);	0.000000	0.49305	D	0.000142	T	0.10035	0.0246	L	0.28694	0.88	0.38008	D	0.934432	D	0.89917	1.0	D	0.87578	0.998	T	0.10064	-1.0646	10	0.02654	T	1	.	14.5976	0.68417	0.0:0.0:1.0:0.0	.	441	Q7Z745	HTRB2_HUMAN	T	145;441	ENSP00000382476:P441T	ENSP00000296803:P145T	P	-	1	0	HEATR7B2	41086859	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.191000	0.50981	2.512000	0.84698	0.655000	0.94253	CCA		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
SNX24	28966	broad.mit.edu	37	5	122281829	122281829	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:122281829G>A	ENST00000261369.4	+	3	409	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	SNX24_ENST00000506996.1_Missense_Mutation_p.R75Q|SNX24_ENST00000395451.4_Missense_Mutation_p.R108Q|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000513881.1_Missense_Mutation_p.R75Q	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	75	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GAACAGCGACGACAAGGCTTG	0.348																																						uc011cwo.1																			0					0						c.(223-225)CGA>CAA		SBBI31 protein							52.0	55.0	54.0					5																	122281829		2203	4300	6503	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122281829G>A	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.224G>A	5.37:g.122281829G>A	ENSP00000261369:p.Arg75Gln					SNX24_uc003ktf.2_Missense_Mutation_p.R75Q|SNX24_uc010jcy.2_Missense_Mutation_p.R75Q	p.R75Q	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	3	393	+		Prostate(80;0.0387)	75			PX.		Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.224G>A	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613477	0.96637	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.86	5.86	0.93980	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.963;0.99	T	0.62774	-0.6783	10	0.46703	T	0.11	0.0748	20.5632	0.99335	0.0:0.0:1.0:0.0	.	75;75	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	Q	75;75;108;75	ENSP00000261369:R75Q;ENSP00000424149:R75Q;ENSP00000378837:R108Q;ENSP00000422535:R75Q	ENSP00000261369:R75Q	R	+	2	0	SNX24	122309728	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.348000	0.97062	2.937000	0.99478	0.650000	0.86243	CGA		0.348	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035	
SLC25A2	83884	broad.mit.edu	37	5	140682773	140682773	+	Silent	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:140682773T>C	ENST00000239451.4	-	1	839	c.660A>G	c.(658-660)ggA>ggG	p.G220G		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	220					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACAGGCAAATTCCAGCAACTC	0.443																																						uc003ljf.2																			0				ovary(1)	1						c.(658-660)GGA>GGG		solute carrier family 25 member 2	L-Ornithine(DB00129)						103.0	102.0	102.0					5																	140682773		2203	4300	6503	SO:0001819	synonymous_variant	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682773T>C	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.660A>G	5.37:g.140682773T>C							p.G220G	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	840	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	220			Solcar 3.|Helical; Name=5; (Potential).		Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	c.660A>G	CCDS4258.1																																																																																				0.443	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947	
G3BP1	10146	broad.mit.edu	37	5	151170550	151170550	+	Missense_Mutation	SNP	A	A	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:151170550A>G	ENST00000394123.3	+	4	423	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	G3BP1_ENST00000356245.3_Missense_Mutation_p.Q93R|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	93	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTGGTAGTCCAGGTGATGGGG	0.453																																						uc003lun.2																			0				skin(3)|ovary(1)	4						c.(277-279)CAG>CGG		Ras-GTPase-activating protein SH3-domain-binding							239.0	204.0	216.0					5																	151170550		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151170550A>G	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.278A>G	5.37:g.151170550A>G	ENSP00000377681:p.Gln93Arg					G3BP1_uc010jhy.1_Missense_Mutation_p.Q93R|G3BP1_uc003lum.2_Missense_Mutation_p.Q93R|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	p.Q93R	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	449	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	93			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.278A>G	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.604307	0.87157	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000520006	T;T	0.75050	-0.9;-0.9	4.69	4.69	0.59074	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.92833	3.35	0.80722	D	1	D;P	0.76494	0.999;0.687	D;B	0.75484	0.986;0.408	D	0.91356	0.5108	10	0.66056	D	0.02	-16.4472	14.4488	0.67370	1.0:0.0:0.0:0.0	.	93;93	E5RJU8;Q13283	.;G3BP1_HUMAN	R	93;93;93;93;103;93	ENSP00000377681:Q93R;ENSP00000348578:Q93R	ENSP00000348578:Q93R	Q	+	2	0	G3BP1	151150743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.120000	0.94369	1.876000	0.54355	0.374000	0.22700	CAG		0.453	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754	
MDC1	9656	broad.mit.edu	37	6	30671524	30671524	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:30671524C>G	ENST00000376406.3	-	10	6083	c.5436G>C	c.(5434-5436)aaG>aaC	p.K1812N	MDC1_ENST00000376405.2_Missense_Mutation_p.K1548N|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1812	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTAAAGACCTCTTGCGGCTTT	0.498								Other conserved DNA damage response genes																														uc003nrg.3																			0				breast(2)|ovary(1)|kidney(1)	4						c.(5434-5436)AAG>AAC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							133.0	131.0	132.0					6																	30671524		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671524C>G	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5436G>C	6.37:g.30671524C>G	ENSP00000365588:p.Lys1812Asn					MDC1_uc003nrf.3_Missense_Mutation_p.K443N|MDC1_uc011dmp.1_Missense_Mutation_p.K1419N	p.K1812N	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5876	-			1812			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5436G>C	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229304	0.58777	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05580	3.42;3.42	4.92	3.95	0.45737	.	0.000000	0.34879	N	0.003602	T	0.10078	0.0247	M	0.72894	2.215	0.26165	N	0.979949	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.87578	0.961;0.987;0.998	T	0.10268	-1.0637	10	0.33940	T	0.23	-23.9515	9.0317	0.36262	0.0:0.8896:0.0:0.1104	.	1548;1812;789	Q14676-2;Q14676;Q14676-4	.;MDC1_HUMAN;.	N	1812;1548;1525;1378	ENSP00000365588:K1812N;ENSP00000365587:K1548N	ENSP00000365587:K1548N	K	-	3	2	MDC1	30779503	0.996000	0.38824	0.991000	0.47740	0.722000	0.41435	1.141000	0.31528	1.285000	0.44548	0.555000	0.69702	AAG		0.498	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
KIAA1586	57691	broad.mit.edu	37	6	56918065	56918065	+	Missense_Mutation	SNP	A	A	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:56918065A>C	ENST00000370733.4	+	4	975	c.768A>C	c.(766-768)ttA>ttC	p.L256F	KIAA1586_ENST00000545356.1_Missense_Mutation_p.L229F	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	256							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTACAGTTTAGTAAAACATA	0.279																																						uc003pdj.2																			0					0						c.(766-768)TTA>TTC		hypothetical protein LOC57691							26.0	28.0	28.0					6																	56918065		2180	4276	6456	SO:0001583	missense	57691						nucleic acid binding	g.chr6:56918065A>C	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.768A>C	6.37:g.56918065A>C	ENSP00000359768:p.Leu256Phe					KIAA1586_uc011dxm.1_Missense_Mutation_p.L229F	p.L256F	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	938	+	Lung NSC(77;0.0969)		256					A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	c.768A>C	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	a	15.53	2.861456	0.51482	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.36157	1.27;1.27	4.25	4.25	0.50352	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.22017	N	0.999416	D;D	0.65815	0.995;0.995	D;D	0.63877	0.919;0.919	T	0.12116	-1.0560	9	0.56958	D	0.05	-1.6302	9.9365	0.41554	1.0:0.0:0.0:0.0	.	229;256	F5H2N6;Q9HCI6	.;K1586_HUMAN	F	256;229	ENSP00000359768:L256F;ENSP00000445507:L229F	ENSP00000359768:L256F	L	+	3	2	KIAA1586	57026024	0.997000	0.39634	0.715000	0.30552	0.988000	0.76386	1.004000	0.29822	1.911000	0.55334	0.383000	0.25322	TTA		0.279	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	
KCNQ5	56479	broad.mit.edu	37	6	73904449	73904449	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:73904449C>T	ENST00000370398.1	+	14	2220	c.2111C>T	c.(2110-2112)gCg>gTg	p.A704V	KCNQ5_ENST00000355635.3_Missense_Mutation_p.A705V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A723V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A714V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A594V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A695V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A704V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	704					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ACTTTCTACGCGCTTAGCCCT	0.488																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2																			0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2110-2112)GCG>GTG		potassium voltage-gated channel, KQT-like							130.0	130.0	130.0					6																	73904449		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904449C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2111C>T	6.37:g.73904449C>T	ENSP00000359425:p.Ala704Val					KCNQ5_uc011dyh.1_Missense_Mutation_p.A723V|KCNQ5_uc011dyi.1_Missense_Mutation_p.A714V|KCNQ5_uc010kat.2_Missense_Mutation_p.A695V|KCNQ5_uc011dyj.1_Missense_Mutation_p.A594V|KCNQ5_uc011dyk.1_Missense_Mutation_p.A454V	p.A704V	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2458	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	704					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2111C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499373	0.64298	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99637	-5.89;-5.9;-5.9;-5.89;-5.91;-5.94;-6.29	5.32	5.32	0.75619	.	0.140270	0.48286	D	0.000184	D	0.99309	0.9758	L	0.56769	1.78	0.25729	N	0.985295	D;D;P;D;D	0.76494	0.999;0.973;0.627;0.994;0.99	D;B;B;P;P	0.64506	0.926;0.439;0.053;0.752;0.734	D	0.98218	1.0476	10	0.39692	T	0.17	.	18.9881	0.92780	0.0:1.0:0.0:0.0	.	594;714;723;695;704	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	723;723;704;704;714;705;695;594	ENSP00000345055:A723V;ENSP00000347326:A704V;ENSP00000359425:A704V;ENSP00000385501:A714V;ENSP00000347853:A705V;ENSP00000384453:A695V;ENSP00000409861:A594V	ENSP00000345055:A723V	A	+	2	0	KCNQ5	73961170	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	2.588000	0.46137	2.486000	0.83907	0.561000	0.74099	GCG		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
IMPG1	3617	broad.mit.edu	37	6	76751736	76751736	+	Nonsense_Mutation	SNP	G	G	A	rs200651043		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:76751736G>A	ENST00000369950.3	-	2	364	c.175C>T	c.(175-177)Cga>Tga	p.R59*	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGAATATTCGTCTCATAGTT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18149	0.001		0.0	False		,,,				2504	0.0				Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				ovary(2)|skin(1)	3						c.(175-177)CGA>TGA		interphotoreceptor matrix proteoglycan 1							190.0	178.0	182.0					6																	76751736		2203	4300	6503	SO:0001587	stop_gained	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751736G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.175C>T	6.37:g.76751736G>A	ENSP00000358966:p.Arg59*						p.R59*	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			2	305	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	59						Nonsense_Mutation	SNP	ENST00000369950.3	37	c.175C>T	CCDS4985.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.3	4.398586	0.83120	.	.	ENSG00000112706	ENST00000369950	.	.	.	6.07	2.99	0.34606	.	0.327775	0.25130	N	0.032906	.	.	.	.	.	.	0.30378	N	0.782241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.045	0.71822	0.0:0.0:0.4597:0.5403	.	.	.	.	X	59	.	.	R	-	1	2	IMPG1	76808456	0.013000	0.17824	0.381000	0.26106	0.182000	0.23217	0.244000	0.18124	0.852000	0.35287	0.655000	0.94253	CGA		0.363	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
NOX3	50508	broad.mit.edu	37	6	155776184	155776184	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:155776184G>A	ENST00000159060.2	-	2	230	c.128C>T	c.(127-129)aCa>aTa	p.T43I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	43					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATAACTCGTGTGTAATGGAA	0.343																																						uc003qqm.2																			0				ovary(1)	1						c.(127-129)ACA>ATA		NADPH oxidase 3							69.0	66.0	67.0					6																	155776184		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155776184G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.128C>T	6.37:g.155776184G>A	ENSP00000159060:p.Thr43Ile						p.T43I	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	2	231	-		Breast(66;0.0183)	43			Extracellular (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.128C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283104	0.59867	.	.	ENSG00000074771	ENST00000159060	D	0.95447	-3.71	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000003	D	0.94470	0.8220	L	0.56769	1.78	0.43907	D	0.996543	D	0.57899	0.981	P	0.52109	0.69	D	0.92168	0.5741	10	0.13853	T	0.58	-22.3496	20.0044	0.97430	0.0:0.0:1.0:0.0	.	43	Q9HBY0	NOX3_HUMAN	I	43	ENSP00000159060:T43I	ENSP00000159060:T43I	T	-	2	0	NOX3	155817876	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.722000	0.74735	2.804000	0.96469	0.650000	0.86243	ACA		0.343	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
EGFR	1956	broad.mit.edu	37	7	55238894	55238894	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:55238894G>A	ENST00000275493.2	+	16	2084	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	EGFR_ENST00000442591.1_Missense_Mutation_p.C636Y|EGFR_ENST00000454757.2_Missense_Mutation_p.C583Y|EGFR_ENST00000455089.1_Missense_Mutation_p.C591Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	636					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.C636Y(1)		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)	CTTGAAGGCTGTCCAACGAAT	0.423		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		1	Substitution - Missense(1)	p.C636Y(1)	central_nervous_system(1)	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.(1906-1908)TGT>TAT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						144.0	126.0	132.0					7																	55238894		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.chr7:55238894G>A		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.1907G>A	7.37:g.55238894G>A	ENSP00000275493:p.Cys636Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.C591Y|EGFR_uc011kco.1_Missense_Mutation_p.C583Y|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	p.C636Y	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)		16	2153	+	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)		636			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1907G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031495	0.54790	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.54	5.54	0.83059	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.90248	0.4291	10	0.87932	D	0	.	16.5484	0.84457	0.0:0.0:1.0:0.0	.	591;636	Q504U8;P00533	.;EGFR_HUMAN	Y	591;506;636;636;583;430	ENSP00000415559:C591Y;ENSP00000275493:C636Y;ENSP00000410031:C636Y;ENSP00000395243:C583Y	ENSP00000275493:C636Y	C	+	2	0	EGFR	55206388	1.000000	0.71417	0.979000	0.43373	0.139000	0.21198	7.314000	0.78988	2.768000	0.95171	0.561000	0.74099	TGT		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
POM121	9883	broad.mit.edu	37	7	72419558	72419558	+	IGR	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:72419558G>A	ENST00000434423.2	+	0	3750				NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000395270.1_3'UTR			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CACAGGGCTCGCTGCTGGAAC	0.622																																						uc003twn.2																			0					0						c.(466-468)CGA>TGA		NOL1/NOP2/Sun domain family, member 5C isoform							21.0	24.0	23.0					7																	72419558		2201	4296	6497	SO:0001628	intergenic_variant	260294							g.chr7:72419558G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527		7.37:g.72419558G>A						POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.2_Intron|NSUN5P2_uc003twm.2_Intron|NSUN5P2_uc003two.2_Nonsense_Mutation_p.R156*|NSUN5P2_uc003twq.2_Silent_p.S158S|NSUN5P2_uc010lan.1_Nonsense_Mutation_p.R28*|NSUN5P2_uc003twp.2_Nonsense_Mutation_p.R156*	p.R156*	NM_032158	NP_115534					9	1178	-								A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Nonsense_Mutation	SNP	ENST00000434423.2	37	c.466C>T																																																																																					0.622	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
CCL24	6369	broad.mit.edu	37	7	75442963	75442963	+	Missense_Mutation	SNP	G	G	A	rs200038952		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:75442963G>A	ENST00000416943.1	-	2	164	c.71C>T	c.(70-72)aCg>aTg	p.T24M	CCL24_ENST00000222902.2_Missense_Mutation_p.T24M	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	24					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						GGTCTTACCCGTAGGGATGAT	0.612																																						uc011kga.1																			0					0						c.(70-72)ACG>ATG		small inducible cytokine A24 precursor							140.0	116.0	124.0					7																	75442963		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75442963G>A	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.71C>T	7.37:g.75442963G>A	ENSP00000400533:p.Thr24Met						p.T24M	NM_002991	NP_002982	O00175	CCL24_HUMAN			1	71	-			24					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.71C>T	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	.	12.21	1.869083	0.32977	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.02682	4.2;4.2	3.39	2.48	0.30137	Chemokine interleukin-8-like domain (1);	0.721746	0.11917	N	0.517039	T	0.02649	0.0080	N	0.19112	0.55	0.09310	N	1	D	0.60575	0.988	P	0.44597	0.454	T	0.49899	-0.8890	10	0.62326	D	0.03	.	7.1138	0.25405	0.1276:0.0:0.8724:0.0	.	24	O00175	CCL24_HUMAN	M	24	ENSP00000222902:T24M;ENSP00000400533:T24M	ENSP00000222902:T24M	T	-	2	0	CCL24	75280899	0.850000	0.29656	0.092000	0.20876	0.002000	0.02628	1.863000	0.39459	0.963000	0.38082	0.655000	0.94253	ACG		0.612	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991	
HGF	3082	broad.mit.edu	37	7	81331979	81331979	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:81331979C>T	ENST00000222390.5	-	18	2331	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	HGF_ENST00000457544.2_Missense_Mutation_p.R697H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	702	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATACCAGGACGATTTGGAAT	0.403																																						uc003uhl.2																			0				ovary(2)|central_nervous_system(2)	4						c.(2104-2106)CGT>CAT		hepatocyte growth factor isoform 1							133.0	125.0	128.0					7																	81331979		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81331979C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.2105G>A	7.37:g.81331979C>T	ENSP00000222390:p.Arg702His					HGF_uc003uhm.2_Missense_Mutation_p.R697H	p.R702H	NM_000601	NP_000592	P14210	HGF_HUMAN			18	2270	-			702			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.2105G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912649	0.72983	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.89617	-2.54;-2.54	5.3	5.3	0.74995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.100995	0.64402	D	0.000001	D	0.91851	0.7421	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.92467	0.5982	10	0.62326	D	0.03	.	19.3172	0.94220	0.0:1.0:0.0:0.0	.	697;702	P14210-3;P14210	.;HGF_HUMAN	H	702;697	ENSP00000222390:R702H;ENSP00000391238:R697H	ENSP00000222390:R702H	R	-	2	0	HGF	81169915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.674000	0.61612	2.643000	0.89663	0.655000	0.94253	CGT		0.403	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
ZNF804B	219578	broad.mit.edu	37	7	88963595	88963595	+	Silent	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:88963595C>A	ENST00000333190.4	+	4	1908	c.1299C>A	c.(1297-1299)acC>acA	p.T433T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	433							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGCATGTACCCATAATGTGG	0.373										HNSCC(36;0.09)																												uc011khi.1																			0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1297-1299)ACC>ACA		zinc finger protein 804B							65.0	66.0	65.0					7																	88963595		2201	4298	6499	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963595C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1299C>A	7.37:g.88963595C>A		HNSCC(36;0.09)					p.T433T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1837	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		433					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1299C>A	CCDS5613.1																																																																																				0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
COL1A2	1278	broad.mit.edu	37	7	94055328	94055328	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:94055328G>C	ENST00000297268.6	+	45	3433	c.2962G>C	c.(2962-2964)Ggt>Cgt	p.G988R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	988					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCTGTTGGTCCTGCTGG	0.478										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2962-2964)GGT>CGT		alpha 2 type I collagen precursor	Collagenase(DB00048)						168.0	157.0	161.0					7																	94055328		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94055328G>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2962G>C	7.37:g.94055328G>C	ENSP00000297268:p.Gly988Arg	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G988R	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		45	3433	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		988					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2962G>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514600	0.64522	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.98807	-5.15	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97940	1.0325	10	0.87932	D	0	.	17.53	0.87811	0.0:0.0:1.0:0.0	.	988	P08123	CO1A2_HUMAN	R	988;989	ENSP00000297268:G988R	ENSP00000297268:G988R	G	+	1	0	COL1A2	93893264	1.000000	0.71417	0.996000	0.52242	0.681000	0.39784	8.890000	0.92477	2.894000	0.99253	0.655000	0.94253	GGT		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
SLC26A3	1811	broad.mit.edu	37	7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:107434196C>T	ENST00000340010.5	-	3	446	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V53I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	88					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383																																						uc003ver.2																			0				ovary(3)|skin(1)	4						c.(262-264)GTA>ATA		solute carrier family 26, member 3							49.0	45.0	47.0					7																	107434196		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107434196C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.262G>A	7.37:g.107434196C>T	ENSP00000345873:p.Val88Ile					SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	p.V88I	NM_000111	NP_000102	P40879	S26A3_HUMAN			3	473	-			88			Helical; (Potential).			Missense_Mutation	SNP	ENST00000340010.5	37	c.262G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581046	0.65992	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.90133	-2.62;-2.62;-2.62	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	N	0.20483	0.58	0.54753	D	0.999989	D;P	0.53462	0.96;0.857	B;B	0.42653	0.369;0.394	T	0.82165	-0.0592	10	0.09338	T	0.73	.	19.679	0.95950	0.0:1.0:0.0:0.0	.	53;88	G5E9U3;P40879	.;S26A3_HUMAN	I	53;88;88	ENSP00000415817:V53I;ENSP00000345873:V88I;ENSP00000395955:V88I	ENSP00000345873:V88I	V	-	1	0	SLC26A3	107221432	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.515000	0.53429	2.658000	0.90341	0.491000	0.48974	GTA		0.383	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	rs267601263	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:123595133G>A	ENST00000439500.1	+	5	1650	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTATAATGCGAAGTATGGTA	0.338													G|||	3	0.000599042	0.0	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0031					uc003vld.2																			2	Substitution - Missense(2)		kidney(2)	ovary(3)|kidney(1)	4						c.(1036-1038)CGA>CAA		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						180.0	178.0	179.0					7																	123595133		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123595133G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1037G>A	7.37:g.123595133G>A	ENSP00000402123:p.Arg346Gln					SPAM1_uc003vle.2_Missense_Mutation_p.R346Q|SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vlf.3_Missense_Mutation_p.R346Q|SPAM1_uc010lku.2_Missense_Mutation_p.R346Q	p.R346Q	NM_153189	NP_694859	P38567	HYALP_HUMAN			5	1439	+			346					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1037G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	3.242	-0.155130	0.06544	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	6.02	-5.2	0.02823	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.225540	0.05401	N	0.540781	T	0.06917	0.0176	N	0.05574	-0.02	0.09310	N	1	B;B	0.25441	0.126;0.126	B;B	0.19148	0.024;0.024	T	0.30679	-0.9970	10	0.02654	T	1	0.1267	4.9752	0.14136	0.5751:0.0883:0.2412:0.0954	.	346;346	Q8TC30;P38567	.;HYALP_HUMAN	Q	346	ENSP00000386028:R346Q;ENSP00000417934:R346Q;ENSP00000345849:R346Q;ENSP00000402123:R346Q;ENSP00000223028:R346Q	ENSP00000223028:R346Q	R	+	2	0	SPAM1	123382369	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.544000	0.02192	-1.001000	0.03434	-0.145000	0.13849	CGA		0.338	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
SVOPL	136306	broad.mit.edu	37	7	138310791	138310791	+	Missense_Mutation	SNP	C	C	T	rs144549446	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:138310791C>T	ENST00000419765.3	-	12	1219	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	SVOPL_ENST00000436657.1_Missense_Mutation_p.G244S|SVOPL_ENST00000288513.5_Missense_Mutation_p.G244S|SNORA40_ENST00000516379.1_RNA|SVOPL_ENST00000421622.1_Missense_Mutation_p.G276S|SVOPL_ENST00000463557.1_5'UTR	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	396						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCAATCAGGCCGGCACTAGAA	0.507													C|||	4	0.000798722	0.003	0.0	5008	,	,		19226	0.0		0.0	False		,,,				2504	0.0					uc011kqh.1																			0					0						c.(1186-1188)GGC>AGC		SVOP-like isoform 1		C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		1186,730	5.3	0.8	7	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SVOPL	NM_001139456.1,NM_174959.2	56,56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	396/493,244/341	138310791	2,13004	2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138310791C>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1186G>A	7.37:g.138310791C>T	ENSP00000405482:p.Gly396Ser					SVOPL_uc003vue.2_Missense_Mutation_p.G244S	p.G396S	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			12	1186	-			396			Helical; (Potential).			Missense_Mutation	SNP	ENST00000419765.3	37	c.1186G>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639632	0.47153	2.27E-4	1.16E-4	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	L	0.37630	1.12	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.986;1.0	T	0.75961	-0.3133	10	0.20519	T	0.43	-19.879	19.0878	0.93212	0.0:1.0:0.0:0.0	.	396;244	Q8N434;Q8N434-2	SVOPL_HUMAN;.	S	244;276;244;396	ENSP00000288513:G244S;ENSP00000412830:G276S;ENSP00000417018:G244S;ENSP00000405482:G396S	ENSP00000288513:G244S	G	-	1	0	SVOPL	137961331	1.000000	0.71417	0.770000	0.31555	0.249000	0.25844	5.747000	0.68689	2.493000	0.84123	0.655000	0.94253	GGC		0.507	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
RIMS2	9699	broad.mit.edu	37	8	105001550	105001550	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:105001550G>A	ENST00000436393.2	+	15	2520	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	RIMS2_ENST00000507740.1_Missense_Mutation_p.G774E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G821E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G982E			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1044					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGAACAGGGGCTTCGAGGG	0.398										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2278-2280)GGG>GAG		regulating synaptic membrane exocytosis 2							134.0	132.0	132.0					8																	105001550		1873	4099	5972	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001550G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2279G>A	8.37:g.105001550G>A	ENSP00000390665:p.Gly760Glu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.G982E|RIMS2_uc003ylw.2_Missense_Mutation_p.G774E|RIMS2_uc003ylq.2_Missense_Mutation_p.G774E|RIMS2_uc003ylr.2_Missense_Mutation_p.G821E	p.G760E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2520	+			1044					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2279G>A		.	.	.	.	.	.	.	.	.	.	G	13.30	2.195384	0.38806	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.16196	2.36;2.83;2.5;2.54;2.46;2.86	5.54	5.54	0.83059	.	.	.	.	.	T	0.29256	0.0728	L	0.29908	0.895	0.80722	D	1	D;B;D;P;P	0.89917	0.991;0.038;1.0;0.646;0.921	P;B;D;B;P	0.79108	0.824;0.018;0.992;0.23;0.696	T	0.02661	-1.1127	9	0.11182	T	0.66	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	1044;760;821;774;982	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	E	982;997;982;1044;821;774;774;760	ENSP00000427018:G982E;ENSP00000384892:G982E;ENSP00000262231:G821E;ENSP00000423559:G774E;ENSP00000386228:G774E;ENSP00000390665:G760E	ENSP00000262231:G821E	G	+	2	0	RIMS2	105070726	1.000000	0.71417	0.989000	0.46669	0.363000	0.29612	6.280000	0.72626	2.617000	0.88574	0.484000	0.47621	GGG		0.398	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
CSMD3	114788	broad.mit.edu	37	8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T	rs536561292		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:114290824C>T	ENST00000297405.5	-	3	755	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E171K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	171	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0.0	0.0	5008	,	,		15815	0.001		0.0	False		,,,				2504	0.0					uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(511-513)GAA>AAA		CUB and Sushi multiple domains 3 isoform 1							112.0	94.0	100.0					8																	114290824		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114290824C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.511G>A	8.37:g.114290824C>T	ENSP00000297405:p.Glu171Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.E131K|CSMD3_uc011lhx.1_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			3	670	-			171			Extracellular (Potential).|CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.511G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	5.150	0.213211	0.09757	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.03	5.03	0.67393	CUB (4);	0.000000	0.64402	D	0.000007	T	0.46171	0.1379	L	0.41824	1.3	0.40766	D	0.983044	D;D;D;D	0.76494	0.995;0.999;0.997;0.971	D;D;D;P	0.74023	0.956;0.982;0.967;0.508	T	0.31779	-0.9931	10	0.38643	T	0.18	.	16.2213	0.82258	0.0:1.0:0.0:0.0	.	171;171;171;131	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	K	131;171;171;171	ENSP00000345799:E131K;ENSP00000297405:E171K;ENSP00000412263:E171K;ENSP00000343124:E171K	ENSP00000297405:E171K	E	-	1	0	CSMD3	114360000	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.493000	0.66899	2.480000	0.83734	0.543000	0.68304	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
IFNA21	3452	broad.mit.edu	37	9	21166247	21166247	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:21166247C>G	ENST00000380225.1	-	1	412	c.365G>C	c.(364-366)tGc>tCc	p.C122S		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	122					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGTATCACGCAGGCTTCCAG	0.463																																						uc003zom.2																			0				central_nervous_system(1)|skin(1)	2						c.(364-366)TGC>TCC		interferon, alpha 21 precursor							168.0	174.0	172.0					9																	21166247		2203	4300	6503	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166247C>G		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.365G>C	9.37:g.21166247C>G	ENSP00000369574:p.Cys122Ser						p.C122S	NM_002175	NP_002166	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	413	-			122					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.365G>C	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	15.64	2.893341	0.52121	.	.	ENSG00000137080	ENST00000380225	T	0.08807	3.05	4.02	4.02	0.46733	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.130766	0.56097	D	0.000025	T	0.36303	0.0962	M	0.92833	3.35	0.09310	N	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.32851	-0.9891	10	0.87932	D	0	.	13.2705	0.60157	0.0:1.0:0.0:0.0	.	122	P01568	IFN21_HUMAN	S	122	ENSP00000369574:C122S	ENSP00000369574:C122S	C	-	2	0	IFNA21	21156247	0.921000	0.31238	0.088000	0.20740	0.054000	0.15201	4.132000	0.57977	2.080000	0.62538	0.644000	0.83932	TGC		0.463	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175	
S1PR3	1903	broad.mit.edu	37	9	91616623	91616623	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:91616623G>A	ENST00000375846.3	+	1	5203	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	S1PR3_ENST00000358157.2_Missense_Mutation_p.A170T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	170					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CACGCTGGGCGCCCTGCCCAT	0.557											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004aqe.2																			0		p.A170A(1)		ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(508-510)GCC>ACC		sphingosine-1-phosphate receptor 3							164.0	117.0	133.0					9																	91616623		2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616623G>A	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.508G>A	9.37:g.91616623G>A	ENSP00000365006:p.Ala170Thr		OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283		p.A170T	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			2	904	+			170			Helical; Name=4; (By similarity).		Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.508G>A	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432911	0.43224	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.72394	-0.65;-0.65	5.41	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.061266	0.64402	D	0.000004	T	0.76905	0.4053	L	0.43152	1.355	0.48341	D	0.999637	D	0.76494	0.999	D	0.65010	0.931	T	0.77485	-0.2570	10	0.52906	T	0.07	.	14.6698	0.68934	0.0:0.0:0.735:0.265	.	170	Q99500	S1PR3_HUMAN	T	170	ENSP00000350878:A170T;ENSP00000365006:A170T	ENSP00000350878:A170T	A	+	1	0	S1PR3	90806443	0.997000	0.39634	0.870000	0.34147	0.584000	0.36387	3.021000	0.49651	0.814000	0.34374	-0.268000	0.10319	GCC		0.557	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226	
SURF4	6836	broad.mit.edu	37	9	136230519	136230519	+	Silent	SNP	G	G	A	rs376860027		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:136230519G>A	ENST00000371989.3	-	6	789	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	220					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TCCAGAAGGCGTTGAAATATA	0.488																																						uc004cdj.2																			0					0						c.(658-660)AAC>AAT		surfeit 4		G		1,4405	2.1+/-5.4	0,1,2202	105.0	95.0	98.0		660	2.4	1.0	9		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SURF4	NM_033161.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		220/270	136230519	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230519G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.660C>T	9.37:g.136230519G>A						SURF4_uc011mda.1_Silent_p.N211N|SURF4_uc010nal.2_3'UTR|SURF4_uc011mdb.1_Silent_p.N177N|SURF4_uc011mdc.1_Silent_p.N177N|SURF4_uc011mdd.1_3'UTR	p.N220N	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	790	-			220			Helical; (Potential).		B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.660C>T	CCDS6968.1																																																																																				0.488	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161	
LCN1	3933	broad.mit.edu	37	9	138415760	138415760	+	Silent	SNP	G	G	A	rs373587388	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:138415760G>A	ENST00000263598.2	+	4	387	c.327G>A	c.(325-327)tcG>tcA	p.S109S	LCN1_ENST00000371781.3_Silent_p.S109S	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	109					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S109S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TCATCAGGTCGCACGTGAAGG	0.602													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17671	0.0		0.0	False		,,,				2504	0.0					uc004cfz.1																			1	Substitution - coding silent(1)		large_intestine(1)		0						c.(325-327)TCG>TCA		lipocalin 1 precursor		G		0,4406		0,0,2203	109.0	88.0	95.0		327	-6.2	0.0	9		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LCN1	NM_002297.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		109/177	138415760	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138415760G>A		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.327G>A	9.37:g.138415760G>A						LCN1_uc004cga.1_Silent_p.S109S	p.S109S	NM_002297	NP_002288	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	4	385	+		Myeloproliferative disorder(178;0.0511)	109					Q5T8A1	Silent	SNP	ENST00000263598.2	37	c.327G>A	CCDS6991.1																																																																																				0.602	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297	
MAGEB1	4112	broad.mit.edu	37	X	30269614	30269614	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:30269614G>A	ENST00000378981.3	+	4	1325	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	MAGEB1_ENST00000397550.1_Missense_Mutation_p.R335H|MAGEB1_ENST00000397548.2_Missense_Mutation_p.R335H	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	335										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTTAGAGCGCGTTCTAGAGCC	0.507																																						uc004dcc.2																			0					0						c.(1003-1005)CGT>CAT		melanoma antigen family B, 1							69.0	64.0	66.0					X																	30269614		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269614G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.1004G>A	X.37:g.30269614G>A	ENSP00000368264:p.Arg335His					MAGEB1_uc004dcd.2_Missense_Mutation_p.R335H|MAGEB1_uc004dce.2_Missense_Mutation_p.R335H	p.R335H	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1324	+			335					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.1004G>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888267	0.17540	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01599	4.74;4.74;4.74	3.1	-2.71	0.05986	.	.	.	.	.	T	0.01092	0.0036	N	0.16708	0.43	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.47182	-0.9137	9	0.25106	T	0.35	.	3.4023	0.07328	0.1135:0.4712:0.2545:0.1608	.	335	P43366	MAGB1_HUMAN	H	335	ENSP00000368264:R335H;ENSP00000380683:R335H;ENSP00000380681:R335H	ENSP00000368264:R335H	R	+	2	0	MAGEB1	30179535	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.672000	0.25187	-0.879000	0.04002	-0.312000	0.09012	CGT		0.507	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
GRIA3	2892	broad.mit.edu	37	X	122460032	122460032	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:122460032G>A	ENST00000371251.1	+	4	716	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	GRIA3_ENST00000371256.5_Missense_Mutation_p.E222K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E222K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E206K|GRIA3_ENST00000264357.5_Missense_Mutation_p.E222K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	222					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GATTGACTGCGAAGTCGAAAG	0.423																																						uc004etq.3																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(664-666)GAA>AAA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						129.0	110.0	117.0					X																	122460032		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122460032G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.664G>A	X.37:g.122460032G>A	ENSP00000360297:p.Glu222Lys					GRIA3_uc004etr.3_Missense_Mutation_p.E222K|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.E206K	p.E222K	NM_007325	NP_015564	P42263	GRIA3_HUMAN			5	957	+			222			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.664G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319588	0.95682	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.66	5.66	0.87406	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.65498	2.005	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.72982	0.922;0.979;0.964	D	0.91009	0.4848	10	0.72032	D	0.01	.	17.5898	0.87992	0.0:0.0:1.0:0.0	.	206;222;222	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	K	222;222;222;222;206	ENSP00000264357:E222K;ENSP00000446146:E222K;ENSP00000360302:E222K;ENSP00000360297:E222K;ENSP00000446440:E206K	ENSP00000264357:E222K	E	+	1	0	GRIA3	122287713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.370000	0.80446	0.600000	0.82982	GAA		0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
