#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BSDC1	55108	broad.mit.edu	37	1	32842193	32842193	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:32842193G>A	ENST00000455895.2	-	9	859	c.826C>T	c.(826-828)Cca>Tca	p.P276S	BSDC1_ENST00000526031.1_Missense_Mutation_p.P181S|BSDC1_ENST00000419121.2_Missense_Mutation_p.P220S|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000413080.1_Missense_Mutation_p.P215S|BSDC1_ENST00000449308.1_Missense_Mutation_p.P276S|BSDC1_ENST00000446293.2_Missense_Mutation_p.P293S|BSDC1_ENST00000341071.7_Missense_Mutation_p.P293S	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	276								p.P293S(2)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCTCTGATGGAGTCACCTCT	0.567																																						uc001bvh.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(826-828)CCA>TCA		BSD domain containing 1 isoform b							122.0	123.0	123.0					1																	32842193		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32842193G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.826C>T	1.37:g.32842193G>A	ENSP00000412173:p.Pro276Ser					BSDC1_uc010ohg.1_Missense_Mutation_p.P293S|BSDC1_uc010ohh.1_Missense_Mutation_p.P220S|BSDC1_uc010ohi.1_Missense_Mutation_p.P181S|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.P172S|BSDC1_uc001bvi.2_Missense_Mutation_p.P293S	p.P276S	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN			9	873	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	276					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.826C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755232	0.89843	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.68	4.68	0.58851	.	0.149083	0.64402	D	0.000008	D	0.83959	0.5367	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.995;0.995;0.998;0.996	D;D;D;D;P	0.71414	0.973;0.951;0.951;0.973;0.894	D	0.84590	0.0666	10	0.51188	T	0.08	-9.5608	17.477	0.87661	0.0:0.0:1.0:0.0	.	181;220;293;293;276	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	S	276;215;293;181;220;293;276	ENSP00000412173:P276S;ENSP00000409114:P215S;ENSP00000344816:P293S;ENSP00000432382:P181S;ENSP00000405752:P220S;ENSP00000397759:P293S;ENSP00000391762:P276S	ENSP00000344816:P293S	P	-	1	0	BSDC1	32614780	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.541000	0.82084	2.535000	0.85469	0.462000	0.41574	CCA		PASS	0.567	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		49	101	49	101	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39800459	39800459	+	Silent	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:39800459C>T	ENST00000372915.3	+	36	8301	c.8214C>T	c.(8212-8214)gaC>gaT	p.D2738D	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.D1173D|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Silent_p.D2770D|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Silent_p.D2733D|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2738					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.D1173D(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAATTGTTGACATATTTAGTG	0.378																																						uc010oiu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3517-3519)GAC>GAT		microfilament and actin filament cross-linker							70.0	72.0	71.0					1																	39800459		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800459C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8214C>T	1.37:g.39800459C>T						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.D1173D	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3650	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2738					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.3519C>T																																																																																					PASS	0.378	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	39	9	39	---	---	---	---
DMAP1	55929	broad.mit.edu	37	1	44685944	44685944	+	Missense_Mutation	SNP	T	T	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:44685944T>G	ENST00000372289.2	+	9	1570	c.1307T>G	c.(1306-1308)aTc>aGc	p.I436S	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.I436S|DMAP1_ENST00000361745.6_Missense_Mutation_p.I436S	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	436					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)	p.I436S(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					AAGGACACCATCATTGATGTG	0.652											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001clq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1306-1308)ATC>AGC		DNA methyltransferase 1 associated protein 1							31.0	31.0	31.0					1																	44685944		2196	4281	6477	SO:0001583	missense	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44685944T>G	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.1307T>G	1.37:g.44685944T>G	ENSP00000361363:p.Ile436Ser		OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	DMAP1_uc001clr.1_Missense_Mutation_p.I436S|DMAP1_uc001cls.1_Missense_Mutation_p.I436S|DMAP1_uc010oku.1_Missense_Mutation_p.I426S	p.I436S	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN			10	1387	+	Acute lymphoblastic leukemia(166;0.155)		436					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	c.1307T>G	CCDS509.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515107	0.85389	.	.	ENSG00000178028	ENST00000361745;ENST00000315913;ENST00000372289	.	.	.	5.48	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	N	0.08118	0	0.58432	D	0.999993	P;P	0.52842	0.956;0.956	P;P	0.47528	0.549;0.549	T	0.05835	-1.0861	9	0.21014	T	0.42	-8.3425	12.1752	0.54182	0.0:0.0:0.1426:0.8574	.	426;436	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	S	436	.	ENSP00000312697:I436S	I	+	2	0	DMAP1	44458531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.717000	0.68446	2.073000	0.62155	0.460000	0.39030	ATC		PASS	0.652	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		8	22	8	22	---	---	---	---
PLK3	1263	broad.mit.edu	37	1	45267395	45267395	+	Silent	SNP	C	C	T	rs142337193	byFrequency	TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:45267395C>T	ENST00000372201.4	+	4	776	c.537C>T	c.(535-537)cgC>cgT	p.R179R	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.R140R(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGCACCAGCGCGGCATCTTGC	0.612													C|||	3	0.000599042	0.0	0.0	5008	,	,		11288	0.0		0.0	False		,,,				2504	0.0031					uc001cmn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(535-537)CGC>CGT		polo-like kinase 3		C		0,4406		0,0,2203	82.0	85.0	84.0		537	-5.2	1.0	1	dbSNP_134	84	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	PLK3	NM_004073.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		179/647	45267395	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45267395C>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.537C>T	1.37:g.45267395C>T						PLK3_uc001cmo.2_RNA	p.R179R	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			4	637	+	Acute lymphoblastic leukemia(166;0.155)		179			Protein kinase.		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.537C>T	CCDS515.1																																																																																				PASS	0.612	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		21	65	21	65	---	---	---	---
ALG6	29929	broad.mit.edu	37	1	63879795	63879795	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:63879795C>T	ENST00000371108.4	+	10	1185	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	ALG6_ENST00000263440.4_Missense_Mutation_p.R296C	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	294					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)	p.R294C(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TATTTTGCCACGTCACATCCA	0.289																																						uc010oow.1																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)CGT>TGT		dolichyl pyrophosphate Man9GlcNAc2							102.0	107.0	105.0					1																	63879795		2203	4297	6500	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63879795C>T	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.880C>T	1.37:g.63879795C>T	ENSP00000360149:p.Arg294Cys					ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_Intron|ALG6_uc010oox.1_Missense_Mutation_p.R93C	p.R294C	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN			10	1185	+			294					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.880C>T	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448419	0.26074	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	D;D	0.83755	-1.76;-1.76	4.34	3.34	0.38264	.	2.121780	0.02177	N	0.060181	T	0.70386	0.3218	L	0.46157	1.445	0.09310	N	0.999999	P;P	0.52170	0.951;0.758	P;B	0.45946	0.498;0.438	T	0.57917	-0.7728	10	0.54805	T	0.06	-6.2716	4.1008	0.10012	0.1648:0.5871:0.1598:0.0884	.	93;296	B4DHV8;A2A2G4	.;.	C	294;296;93	ENSP00000360149:R294C;ENSP00000263440:R296C	ENSP00000263440:R296C	R	+	1	0	ALG6	63652383	0.001000	0.12720	0.354000	0.25760	0.880000	0.50808	0.849000	0.27723	2.109000	0.64355	0.655000	0.94253	CGT		PASS	0.289	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		41	68	41	68	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86591318	86591318	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:86591318T>C	ENST00000370571.2	-	3	1067	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	COL24A1_ENST00000436319.1_Missense_Mutation_p.Y234C	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	234					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.Y234C(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATATCTGCAGTAGTCTGCAGA	0.378																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(700-702)TAC>TGC		collagen, type XXIV, alpha 1 precursor							64.0	63.0	63.0					1																	86591318		1974	4159	6133	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591318T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.701A>G	1.37:g.86591318T>C	ENSP00000359603:p.Tyr234Cys					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Y234C	p.Y234C	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	743	-			234					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.701A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271312	0.40194	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02301	4.35;4.35	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);	0.000000	0.36066	N	0.002814	T	0.06690	0.0171	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.07829	-1.0752	10	0.72032	D	0.01	.	15.3471	0.74346	0.0:0.0:0.0:1.0	.	234;234	F8WDM8;Q17RW2	.;COOA1_HUMAN	C	234	ENSP00000359603:Y234C;ENSP00000392531:Y234C	ENSP00000359603:Y234C	Y	-	2	0	COL24A1	86363906	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	7.653000	0.83643	2.220000	0.72140	0.533000	0.62120	TAC		PASS	0.378	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		32	47	32	47	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86920831	86920831	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:86920831C>A	ENST00000370565.4	+	14	2615	c.2453C>A	c.(2452-2454)gCt>gAt	p.A818D		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	818					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.A818D(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TTTAACAATGCTATTTTAGTA	0.338																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2452-2454)GCT>GAT		chloride channel accessory 2 precursor							50.0	49.0	49.0					1																	86920831		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86920831C>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2453C>A	1.37:g.86920831C>A	ENSP00000359596:p.Ala818Asp						p.A818D	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	14	2615	+		Lung NSC(277;0.238)	818			Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2453C>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085399	0.76642	.	.	ENSG00000137975	ENST00000370565	T	0.03772	3.81	5.64	4.7	0.59300	.	0.301070	0.31415	N	0.007681	T	0.14013	0.0339	M	0.86864	2.845	0.37672	D	0.92316	D	0.71674	0.998	P	0.60345	0.873	T	0.04386	-1.0955	10	0.56958	D	0.05	-6.2418	15.9758	0.80063	0.0:0.8646:0.1354:0.0	.	818	Q9UQC9	CLCA2_HUMAN	D	818	ENSP00000359596:A818D	ENSP00000359596:A818D	A	+	2	0	CLCA2	86693419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.669000	0.54561	1.316000	0.45131	0.585000	0.79938	GCT		PASS	0.338	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		3	67	3	67	---	---	---	---
KIAA1324	57535	broad.mit.edu	37	1	109740262	109740262	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:109740262C>T	ENST00000369939.3	+	16	2471	c.2288C>T	c.(2287-2289)gCt>gTt	p.A763V	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A676V|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	763					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.A763V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GTCAGCCTTGCTGATCGACTT	0.522																																						uc001dwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(2287-2289)GCT>GTT		hypothetical protein LOC57535 precursor							43.0	37.0	40.0					1																	109740262		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109740262C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2288C>T	1.37:g.109740262C>T	ENSP00000358955:p.Ala763Val					KIAA1324_uc009wex.1_Missense_Mutation_p.A713V|KIAA1324_uc009wey.2_Missense_Mutation_p.A676V|KIAA1324_uc010ovg.1_Missense_Mutation_p.A661V|KIAA1324_uc001dwr.2_Missense_Mutation_p.A413V|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA	p.A763V	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	17	2424	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	763			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.2288C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688889	0.88735	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.19532	2.33;2.14;2.33	6.08	6.08	0.98989	Mannose-6-phosphate receptor, binding (1);	0.100209	0.64402	D	0.000002	T	0.29126	0.0724	L	0.60455	1.87	0.58432	D	0.999993	P;D;P;P	0.57571	0.947;0.98;0.947;0.947	P;P;P;P	0.56278	0.716;0.795;0.716;0.716	T	0.00804	-1.1559	10	0.87932	D	0	-19.472	15.5756	0.76380	0.0:0.8618:0.1382:0.0	.	763;676;763;763	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	V	763;713;676	ENSP00000358955:A763V;ENSP00000393964:A713V;ENSP00000434595:A676V	ENSP00000358955:A763V	A	+	2	0	KIAA1324	109541785	0.983000	0.35010	0.990000	0.47175	0.876000	0.50452	2.615000	0.46368	2.894000	0.99253	0.655000	0.94253	GCT		PASS	0.522	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		3	14	3	14	---	---	---	---
RHOC	389	broad.mit.edu	37	1	113244258	113244258	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:113244258C>G	ENST00000285735.2	-	6	1695	c.486G>C	c.(484-486)aaG>aaC	p.K162N	RHOC_ENST00000369642.3_Missense_Mutation_p.K162N|RP11-426L16.10_ENST00000471038.2_5'Flank|RHOC_ENST00000369632.2_Missense_Mutation_p.K162N|RHOC_ENST00000369633.2_Missense_Mutation_p.K162N|RHOC_ENST00000369637.1_Missense_Mutation_p.K162N|RHOC_ENST00000369636.2_Missense_Mutation_p.R142T|RHOC_ENST00000369638.2_Missense_Mutation_p.K162N|RHOC_ENST00000339083.7_Missense_Mutation_p.K162N			P08134	RHOC_HUMAN	ras homolog family member C	162					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)	p.K162N(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCCTTGGTCTTGGCTGAGC	0.602																																						uc001ecp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(484-486)AAG>AAC		ras homolog gene family, member C precursor							126.0	110.0	116.0					1																	113244258		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113244258C>G	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.486G>C	1.37:g.113244258C>G	ENSP00000285735:p.Lys162Asn					RHOC_uc001ecq.1_Missense_Mutation_p.K162N|RHOC_uc001ecr.1_Missense_Mutation_p.K162N|RHOC_uc009wgk.1_Missense_Mutation_p.K162N	p.K162N	NM_001042679	NP_001036144	P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	786	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	162					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.486G>C	CCDS854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.48|18.48	3.632517|3.632517	0.67015|0.67015	.|.	.|.	ENSG00000155366|ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717|ENST00000369636	T;T;T;T;T;T;T;T;T;T|T	0.74315|0.71579	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83|-0.58	5.13|5.13	3.26|3.26	0.37387|0.37387	.|.	.|6.005810	.|0.01346	.|U	.|0.011737	T|T	0.81555|0.81555	0.4847|0.4847	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	B|.	0.29612|.	0.251|.	B|.	0.36335|.	0.222|.	T|T	0.72978|0.72978	-0.4127|-0.4127	9|8	0.54805|0.26408	T|T	0.06|0.33	-1.7828|-1.7828	10.5688|10.5688	0.45188|0.45188	0.0:0.8426:0.0:0.1574|0.0:0.8426:0.0:0.1574	.|.	162|.	P08134|.	RHOC_HUMAN|.	N|T	162;162;162;162;162;162;162;199;162;162|142	ENSP00000345236:K162N;ENSP00000358647:K162N;ENSP00000358656:K162N;ENSP00000285735:K162N;ENSP00000358652:K162N;ENSP00000358651:K162N;ENSP00000358646:K162N;ENSP00000434877:K199N;ENSP00000390823:K162N;ENSP00000436240:K162N|ENSP00000358650:R142T	ENSP00000285735:K162N|ENSP00000358650:R142T	K|R	-|-	3|2	2|0	RHOC|RHOC	113045781|113045781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.190000|2.190000	0.42630|0.42630	1.173000|1.173000	0.42796|0.42796	0.563000|0.563000	0.77884|0.77884	AAG|AGA		PASS	0.602	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		30	38	30	38	---	---	---	---
CD2	914	broad.mit.edu	37	1	117297478	117297478	+	Missense_Mutation	SNP	A	A	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:117297478A>T	ENST00000369478.3	+	2	395	c.287A>T	c.(286-288)cAt>cTt	p.H96L	CD2_ENST00000369477.1_Missense_Mutation_p.H96L	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	96	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.H96L(1)		NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAAATTAAGCATCTGAAGACC	0.294																																					NSCLC(14;263 555 26380 43512 51332)	uc001egu.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(286-288)CAT>CTT		CD2 molecule precursor	Alefacept(DB00092)						44.0	46.0	45.0					1																	117297478		2201	4300	6501	SO:0001583	missense	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297478A>T	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.287A>T	1.37:g.117297478A>T	ENSP00000358490:p.His96Leu					CD2_uc010owz.1_Missense_Mutation_p.H96L|CD2_uc010oxa.1_Missense_Mutation_p.H96L	p.H96L	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	2	316	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	96			Extracellular (Potential).|Ig-like V-type.		Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	c.287A>T	CCDS889.1	.	.	.	.	.	.	.	.	.	.	A	9.427	1.084470	0.20309	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	T;T	0.22743	1.94;1.94	4.27	0.459	0.16678	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.293550	0.04980	N	0.465513	T	0.09642	0.0237	L	0.46157	1.445	0.09310	N	1	P;P;B	0.45212	0.727;0.853;0.241	P;P;B	0.44623	0.449;0.455;0.114	T	0.22452	-1.0216	10	0.56958	D	0.05	-0.8358	5.2535	0.15534	0.5141:0.3865:0.0994:0.0	.	96;96;96	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	L	96	ENSP00000358490:H96L;ENSP00000358489:H96L	ENSP00000358489:H96L	H	+	2	0	CD2	117099001	0.000000	0.05858	0.005000	0.12908	0.021000	0.10359	0.135000	0.15952	-0.025000	0.13918	-0.461000	0.05368	CAT		PASS	0.294	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		8	33	8	33	---	---	---	---
PRKAB2	5565	broad.mit.edu	37	1	146638191	146638191	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:146638191C>G	ENST00000254101.3	-	5	562	c.424G>C	c.(424-426)Gtt>Ctt	p.V142L	PRKAB2_ENST00000425272.2_Missense_Mutation_p.V60L	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	142					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.V142L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TGACTGGTAACCACAGGCTGA	0.343																																						uc001epe.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(424-426)GTT>CTT		AMP-activated protein kinase beta 2	Adenosine monophosphate(DB00131)						81.0	82.0	81.0					1																	146638191		2203	4300	6503	SO:0001583	missense	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146638191C>G	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.424G>C	1.37:g.146638191C>G	ENSP00000254101:p.Val142Leu					PRKAB2_uc010ozm.1_Missense_Mutation_p.V60L|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.V142L	p.V142L	NM_005399	NP_005390	O43741	AAKB2_HUMAN			5	569	-	all_hematologic(923;0.0487)		142					A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	37	c.424G>C	CCDS925.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085183	0.55861	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.78	4.87	0.63330	.	0.057984	0.64402	D	0.000002	T	0.43433	0.1247	L	0.55213	1.73	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.15484	0.005;0.013	T	0.49551	-0.8928	9	0.51188	T	0.08	.	12.8231	0.57704	0.0:0.921:0.0:0.079	.	60;142	B4DH06;O43741	.;AAKB2_HUMAN	L	142;60	.	ENSP00000254101:V142L	V	-	1	0	PRKAB2	145104815	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.786000	0.69006	1.597000	0.50072	0.655000	0.94253	GTT		PASS	0.343	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399		15	49	15	49	---	---	---	---
ECM1	1893	broad.mit.edu	37	1	150484888	150484888	+	Missense_Mutation	SNP	T	T	A	rs375471875		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:150484888T>A	ENST00000369047.4	+	8	1269	c.1144T>A	c.(1144-1146)Ttg>Atg	p.L382M	ECM1_ENST00000369049.4_Missense_Mutation_p.L409M|ECM1_ENST00000346569.6_Missense_Mutation_p.L257M|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	382	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.L382M(1)|p.L409M(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCACCACCACTTGTGTTGCCG	0.567																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1144-1146)TTG>ATG		extracellular matrix protein 1 isoform 1		T	MET/LEU,MET/LEU,MET/LEU	0,4406		0,0,2203	125.0	108.0	114.0		1225,1144,769	-2.8	0.0	1		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ECM1	NM_001202858.1,NM_004425.3,NM_022664.2	15,15,15	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	benign,benign,benign	409/568,382/541,257/416	150484888	1,13005	2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150484888T>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1144T>A	1.37:g.150484888T>A	ENSP00000358043:p.Leu382Met					ECM1_uc001eut.2_Missense_Mutation_p.L257M|ECM1_uc001euu.2_Missense_Mutation_p.L411M|ECM1_uc001euv.2_Missense_Mutation_p.L409M|ECM1_uc009wlu.2_Missense_Mutation_p.L142M	p.L382M	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	1343	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		382			2 X approximate repeats.|2.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1144T>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	T	2.572	-0.299488	0.05532	0.0	1.16E-4	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.85629	-2.01;-2.01;-2.01	4.51	-2.81	0.05805	.	1.681740	0.03506	N	0.218857	T	0.48059	0.1479	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14438	0.01;0.005;0.002;0.006	B;B;B;B	0.22386	0.004;0.039;0.007;0.007	T	0.45731	-0.9241	10	0.41790	T	0.15	1.0443	3.1275	0.06412	0.1448:0.0951:0.4849:0.2751	.	409;382;257;382	Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;ECM1_HUMAN	M	409;382;257	ENSP00000358045:L409M;ENSP00000358043:L382M;ENSP00000271630:L257M	ENSP00000271630:L257M	L	+	1	2	ECM1	148751512	0.069000	0.21087	0.001000	0.08648	0.002000	0.02628	0.051000	0.14141	-0.245000	0.09625	0.383000	0.25322	TTG		PASS	0.567	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		44	101	44	101	---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155167970	155167970	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:155167970C>G	ENST00000368378.3	-	18	2136	c.2116G>C	c.(2116-2118)Gat>Cat	p.D706H	RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.D235H|THBS3_ENST00000541576.1_Missense_Mutation_p.D103H|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D586H|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	706					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D706H(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCACAGCATCATTGTCAAAG	0.557																																						uc001fix.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(2116-2118)GAT>CAT		thrombospondin 3 precursor							174.0	146.0	155.0					1																	155167970		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155167970C>G	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2116G>C	1.37:g.155167970C>G	ENSP00000357362:p.Asp706His					RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.D697H|THBS3_uc001fiz.2_Missense_Mutation_p.D669H|THBS3_uc001fiy.2_Missense_Mutation_p.D235H|THBS3_uc010pfu.1_Missense_Mutation_p.D586H|THBS3_uc010pfv.1_RNA	p.D706H	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		18	2139	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		706			TSP type-3 8.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2116G>C	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240827	0.79912	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.99923	-8.01;-8.01;-8.01;-8.01	4.98	4.98	0.66077	.	0.060915	0.64402	D	0.000006	D	0.99945	0.9976	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.95909	0.8921	10	0.87932	D	0	-18.4904	15.7777	0.78236	0.0:1.0:0.0:0.0	.	586;706;706;706	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	706;103;586;235	ENSP00000357362:D706H;ENSP00000444792:D103H;ENSP00000392207:D586H;ENSP00000437353:D235H	ENSP00000357362:D706H	D	-	1	0	THBS3	153434594	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	7.651000	0.83577	2.582000	0.87167	0.563000	0.77884	GAT		PASS	0.557	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		54	111	54	111	---	---	---	---
DAP3	7818	broad.mit.edu	37	1	155695241	155695241	+	Missense_Mutation	SNP	A	A	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:155695241A>T	ENST00000368336.5	+	5	463	c.339A>T	c.(337-339)aaA>aaT	p.K113N	DAP3_ENST00000535183.1_Missense_Mutation_p.K72N|DAP3_ENST00000421487.2_Missense_Mutation_p.K79N|DAP3_ENST00000343043.3_Missense_Mutation_p.K113N|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.K72N|DAP3_ENST00000496863.1_3'UTR|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	113					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.K113N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ATTACCTGAAAAACACCAGTT	0.448																																						uc001flq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)AAA>AAT		death-associated protein 3							219.0	203.0	209.0					1																	155695241		2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155695241A>T	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.339A>T	1.37:g.155695241A>T	ENSP00000357320:p.Lys113Asn					DAP3_uc001flr.2_Missense_Mutation_p.K113N|DAP3_uc001fls.2_Missense_Mutation_p.K113N|DAP3_uc010pgl.1_Missense_Mutation_p.K72N|DAP3_uc001flt.2_Missense_Mutation_p.K79N|DAP3_uc001flu.2_Missense_Mutation_p.K113N|DAP3_uc010pgm.1_Missense_Mutation_p.K79N	p.K113N	NM_033657	NP_387506	P51398	RT29_HUMAN			5	508	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		113					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.339A>T	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635021	0.67130	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.65	5.65	0.86999	.	0.093805	0.64402	D	0.000001	T	0.48909	0.1526	L	0.51853	1.615	0.52501	D	0.999954	B;D;D;P	0.89917	0.45;1.0;1.0;0.771	B;D;D;P	0.77557	0.315;0.99;0.99;0.592	T	0.52859	-0.8519	10	0.42905	T	0.14	-18.209	8.2331	0.31610	0.8554:0.0:0.1446:0.0	.	72;79;79;113	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	N	113;113;79;72	ENSP00000357320:K113N;ENSP00000341692:K113N;ENSP00000412605:K79N;ENSP00000445003:K72N	ENSP00000341692:K113N	K	+	3	2	DAP3	153961865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.185000	0.32065	2.371000	0.80710	0.533000	0.62120	AAA		PASS	0.448	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		31	144	31	144	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157557276	157557276	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:157557276C>T	ENST00000271532.1	-	5	772	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	213	Ig-like C2-type 3.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E213K(1)|p.E213Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTGTGTTTCACAGCTCAGG	0.498																																						uc001fqw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(637-639)GAA>AAA		Fc receptor-like 4 precursor							160.0	162.0	161.0					1																	157557276		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557276C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.637G>A	1.37:g.157557276C>T	ENSP00000271532:p.Glu213Lys					FCRL4_uc010phy.1_RNA	p.E213K	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			5	773	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	213			Ig-like C2-type 3.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.637G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234833	0.58886	.	.	ENSG00000163518	ENST00000271532	T	0.12255	2.7	4.71	0.544	0.17185	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.329531	0.21891	N	0.067596	T	0.06050	0.0157	L	0.53249	1.67	0.23464	N	0.997625	B	0.33748	0.423	B	0.42138	0.377	T	0.30851	-0.9964	10	0.45353	T	0.12	.	5.1839	0.15174	0.0:0.4171:0.3782:0.2047	.	213	Q96PJ5	FCRL4_HUMAN	K	213	ENSP00000271532:E213K	ENSP00000271532:E213K	E	-	1	0	FCRL4	155823900	0.031000	0.19500	0.644000	0.29465	0.936000	0.57629	-0.633000	0.05483	0.006000	0.14734	0.467000	0.42956	GAA		PASS	0.498	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		157	147	157	147	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157660175	157660175	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:157660175G>A	ENST00000368184.3	-	9	1851	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.I520I|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	520	Ig-like C2-type 6.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I520I(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGTGGGCCGAGATGTTCCCCA	0.567																																						uc001frb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(1558-1560)ATC>ATT		Fc receptor-like 3 precursor							87.0	87.0	87.0					1																	157660175		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157660175G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1560C>T	1.37:g.157660175G>A						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.I520I|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.I246I|FCRL3_uc001frc.1_Silent_p.I520I	p.I520I	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			9	1852	-	all_hematologic(112;0.0378)		520			Ig-like C2-type 6.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1560C>T	CCDS1167.1																																																																																				PASS	0.567	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		22	164	22	164	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157718392	157718392	+	Silent	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:157718392C>T	ENST00000361516.3	-	10	1458	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	470					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.V470V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AAACCACATCCACATCTACAG	0.493																																						uc001fre.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1408-1410)GTG>GTA		Fc receptor-like 2 precursor							118.0	115.0	116.0					1																	157718392		2203	4300	6503	SO:0001819	synonymous_variant	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157718392C>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1410G>A	1.37:g.157718392C>T						FCRL2_uc001frd.2_Silent_p.V217V|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Intron	p.V470V	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		10	1469	-	all_hematologic(112;0.0378)		470			Cytoplasmic (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	c.1410G>A	CCDS1168.1																																																																																				PASS	0.493	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		84	97	84	97	---	---	---	---
ITLN2	142683	broad.mit.edu	37	1	160917718	160917718	+	Splice_Site	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:160917718C>G	ENST00000368029.3	-	7	883		c.e7+1		ITLN2_ENST00000494442.1_Splice_Site|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2							extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.?(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAAAAACTCACATGCTCAGTG	0.438																																						uc001fxd.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e7+1		intelectin 2 precursor							92.0	83.0	86.0					1																	160917718		2203	4300	6503	SO:0001630	splice_region_variant	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160917718C>G	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.825+1G>C	1.37:g.160917718C>G						ITLN2_uc009wts.2_Splice_Site_p.H274_splice|ITLN2_uc010pju.1_Splice_Site_p.H192_splice	p.H275_splice	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	883	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)							Q17RR2|Q5VYI0	Splice_Site	SNP	ENST00000368029.3	37	c.825_splice	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961214	0.53400	.	.	ENSG00000158764	ENST00000368029	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8163	0.70036	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITLN2	159184342	1.000000	0.71417	0.845000	0.33349	0.662000	0.39071	2.853000	0.48317	2.126000	0.65437	0.555000	0.69702	.		PASS	0.438	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878	Intron	15	76	15	76	---	---	---	---
DDR2	4921	broad.mit.edu	37	1	162745548	162745548	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:162745548G>A	ENST00000367922.3	+	16	2401	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.E655K	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E655K(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TATGATCACTGAATACATGGA	0.453																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(1963-1965)GAA>AAA		discoidin domain receptor family, member 2							157.0	148.0	151.0					1																	162745548		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162745548G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1963G>A	1.37:g.162745548G>A	ENSP00000356899:p.Glu655Lys					DDR2_uc001gcg.2_Missense_Mutation_p.E655K	p.E655K	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		16	2428	+	all_hematologic(112;0.115)		655			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.1963G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631752	0.96682	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.95035	-3.59;-3.59	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	H	0.96208	3.785	0.40592	D	0.981498	D	0.89917	1.0	D	0.83275	0.996	D	0.99425	1.0934	9	0.87932	D	0	.	17.6743	0.88226	0.0:0.0:1.0:0.0	.	655	Q16832	DDR2_HUMAN	K	655	ENSP00000356899:E655K;ENSP00000356898:E655K	ENSP00000356898:E655K	E	+	1	0	DDR2	161012172	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.671000	0.98627	2.555000	0.86185	0.655000	0.94253	GAA		PASS	0.453	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		10	251	10	251	---	---	---	---
C1orf105	92346	broad.mit.edu	37	1	172414239	172414239	+	Silent	SNP	T	T	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:172414239T>C	ENST00000367727.4	+	2	246	c.48T>C	c.(46-48)atT>atC	p.I16I	PIGC_ENST00000484368.1_5'Flank|PIGC_ENST00000367728.1_5'Flank|PIGC_ENST00000344529.4_5'Flank|PIGC_ENST00000258324.1_5'Flank	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	16								p.I16I(1)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTGACAAGATTCCTTGGCTTA	0.418																																						uc001gik.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(46-48)ATT>ATC		hypothetical protein LOC92346							94.0	92.0	93.0					1																	172414239		2203	4300	6503	SO:0001819	synonymous_variant	92346							g.chr1:172414239T>C	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.48T>C	1.37:g.172414239T>C						PIGC_uc001gii.1_5'Flank|PIGC_uc001gij.1_5'Flank|PIGC_uc001gil.2_5'Flank|PIGC_uc001gin.2_5'Flank|PIGC_uc001gio.2_5'Flank	p.I16I	NM_139240	NP_640333	O95561	CA105_HUMAN			2	244	+			16					Q8IY02	Silent	SNP	ENST00000367727.4	37	c.48T>C	CCDS1301.1																																																																																				PASS	0.418	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		16	81	16	81	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372327	175372327	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:175372327C>T	ENST00000367674.2	-	4	1633	c.925G>A	c.(925-927)Gag>Aag	p.E309K	TNR_ENST00000263525.2_Missense_Mutation_p.E309K			Q92752	TENR_HUMAN	tenascin R	309	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E309K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGAGCCCCTCCTCACATTGT	0.607																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(925-927)GAG>AAG		tenascin R precursor							97.0	78.0	84.0					1																	175372327		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372327C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.925G>A	1.37:g.175372327C>T	ENSP00000356646:p.Glu309Lys					TNR_uc009wwu.1_Missense_Mutation_p.E309K|TNR_uc010pmz.1_Missense_Mutation_p.E309K	p.E309K	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	1006	-	Renal(580;0.146)		309			Cys-rich.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.925G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781250	0.70222	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.03441	3.93;3.93	6.04	6.04	0.98038	EGF, extracellular (1);	0.059909	0.64402	D	0.000003	T	0.04227	0.0117	N	0.26042	0.785	0.42105	D	0.991354	P;P	0.37594	0.501;0.601	B;B	0.34038	0.081;0.174	T	0.57774	-0.7753	10	0.28530	T	0.3	.	20.1743	0.98175	0.0:1.0:0.0:0.0	.	309;309	B4DIX8;Q92752	.;TENR_HUMAN	K	309	ENSP00000356646:E309K;ENSP00000263525:E309K	ENSP00000263525:E309K	E	-	1	0	TNR	173638950	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.239000	0.51360	2.873000	0.98535	0.561000	0.74099	GAG		PASS	0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		24	37	24	37	---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	175916338	175916338	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:175916338G>A	ENST00000367669.3	-	19	2685	c.2171C>T	c.(2170-2172)aCa>aTa	p.T724I	RFWD2_ENST00000308769.8_Missense_Mutation_p.T700I	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	724					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.T724I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TACCTTAATTGTACCCTGACT	0.373																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2170-2172)ACA>ATA		ring finger and WD repeat domain 2 isoform a							129.0	139.0	136.0					1																	175916338		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175916338G>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.2171C>T	1.37:g.175916338G>A	ENSP00000356641:p.Thr724Ile					RFWD2_uc001gkv.1_Missense_Mutation_p.T700I|RFWD2_uc001gkw.1_Missense_Mutation_p.T484I|RFWD2_uc009wwv.2_Missense_Mutation_p.T523I|RFWD2_uc001gkt.1_Missense_Mutation_p.T563I	p.T724I	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			19	2427	-			724			WD 7.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.2171C>T	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658191	0.47467	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.71934	-0.61;-0.61;-0.61	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.172542	0.49916	D	0.000126	T	0.72285	0.3441	N	0.21545	0.675	0.53688	D	0.999975	B;P;B;P;P	0.50156	0.008;0.824;0.376;0.932;0.824	B;P;B;P;P	0.58520	0.014;0.84;0.084;0.84;0.84	T	0.72320	-0.4329	10	0.42905	T	0.14	0.8689	16.5671	0.84601	0.0:0.0:1.0:0.0	.	499;484;700;724;724	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	I	499;724;559;700	ENSP00000356641:T724I;ENSP00000356638:T559I;ENSP00000310943:T700I	ENSP00000310943:T700I	T	-	2	0	RFWD2	174182961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.430000	0.66501	2.685000	0.91497	0.650000	0.86243	ACA		PASS	0.373	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		50	179	50	179	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200524526	200524526	+	Missense_Mutation	SNP	G	G	C	rs547122818		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:200524526G>C	ENST00000367350.4	-	28	4848	c.4410C>G	c.(4408-4410)atC>atG	p.I1470M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1470	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.I1470M(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTCAGCAAAGATGTTTTCAA	0.244																																						uc010ppk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(4408-4410)ATC>ATG		kinesin family member 14							53.0	59.0	57.0					1																	200524526		2200	4285	6485	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200524526G>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4410C>G	1.37:g.200524526G>C	ENSP00000356319:p.Ile1470Met					KIF14_uc010ppj.1_Missense_Mutation_p.I979M	p.I1470M	NM_014875	NP_055690	Q15058	KIF14_HUMAN			28	4849	-			1470			Required for CIT-binding.|Potential.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.4410C>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570868	0.13623	.	.	ENSG00000118193	ENST00000367350	T	0.74737	-0.87	5.19	1.03	0.20045	.	1.422610	0.03813	N	0.266246	T	0.54549	0.1865	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.41215	-0.9521	10	0.27082	T	0.32	.	6.299	0.21101	0.1624:0.2836:0.5539:0.0	.	1470	Q15058	KIF14_HUMAN	M	1470	ENSP00000356319:I1470M	ENSP00000356319:I1470M	I	-	3	3	KIF14	198791149	0.000000	0.05858	0.002000	0.10522	0.986000	0.74619	0.055000	0.14229	0.302000	0.22762	0.655000	0.94253	ATC		PASS	0.244	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		16	54	16	54	---	---	---	---
TIMM17A	10440	broad.mit.edu	37	1	201926485	201926485	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:201926485A>G	ENST00000367287.4	+	2	139	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	35					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.K35E(1)		kidney(1)|lung(3)|stomach(1)	5						TCAAGCAATCAAAGGTTTTCG	0.448																																						uc001gxc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)AAA>GAA		translocase of inner mitochondrial membrane 17							202.0	187.0	192.0					1																	201926485		2203	4300	6503	SO:0001583	missense	10440				protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr1:201926485A>G	AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.103A>G	1.37:g.201926485A>G	ENSP00000356256:p.Lys35Glu						p.K35E	NM_006335	NP_006326	Q99595	TI17A_HUMAN			2	139	+			35			Helical; (Potential).		B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	c.103A>G	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736722	0.89482	.	.	ENSG00000134375	ENST00000367287	T	0.30448	1.53	5.95	4.82	0.62117	.	0.040991	0.85682	D	0.000000	T	0.46092	0.1375	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	T	0.35101	-0.9802	10	0.48119	T	0.1	-13.9445	10.2327	0.43264	0.922:0.0:0.078:0.0	.	35	Q99595	TI17A_HUMAN	E	35	ENSP00000356256:K35E	ENSP00000356256:K35E	K	+	1	0	TIMM17A	200193108	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.987000	0.93497	1.071000	0.40834	-0.256000	0.11100	AAA		PASS	0.448	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335		17	96	17	96	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203030153	203030153	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:203030153C>T	ENST00000447715.2	+	28	3215	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	PPFIA4_ENST00000414050.2_Missense_Mutation_p.T654I|PPFIA4_ENST00000295706.4_Missense_Mutation_p.T441I|PPFIA4_ENST00000367240.2_Missense_Mutation_p.T926I|PPFIA4_ENST00000272198.6_Missense_Mutation_p.T441I|PPFIA4_ENST00000599966.1_Missense_Mutation_p.T441I			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	925					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.T1080I(1)|p.T441I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAACATCTACTAAAACAGTG	0.567																																						uc001gyz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1321-1323)ACT>ATT		protein tyrosine phosphatase, receptor type, f							157.0	160.0	159.0					1																	203030153		1934	4126	6060	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203030153C>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2774C>T	1.37:g.203030153C>T	ENSP00000402576:p.Thr925Ile					PPFIA4_uc009xaj.2_Missense_Mutation_p.T1072I|PPFIA4_uc010pqf.1_Missense_Mutation_p.T654I|PPFIA4_uc001gza.2_Missense_Mutation_p.T441I|PPFIA4_uc001gzb.1_Missense_Mutation_p.T136I	p.T441I	NM_015053	NP_055868	O75335	LIPA4_HUMAN			10	1915	+			441					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.1322C>T		.	.	.	.	.	.	.	.	.	.	C	16.54	3.153004	0.57259	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.24723	2.19;1.87;1.84;1.87;1.84	5.11	3.21	0.36854	.	0.336595	0.21390	N	0.075322	T	0.27098	0.0664	L	0.46157	1.445	0.49389	D	0.999789	B;B;B;B;B	0.28971	0.021;0.229;0.073;0.229;0.147	B;B;B;B;B	0.36766	0.056;0.197;0.066;0.232;0.117	T	0.08493	-1.0719	10	0.72032	D	0.01	-2.2269	10.5791	0.45244	0.0:0.7945:0.1333:0.0722	.	654;925;136;441;441	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	I	926;925;441;654;441	ENSP00000356209:T926I;ENSP00000402576:T925I;ENSP00000295706:T441I;ENSP00000400379:T654I;ENSP00000272198:T441I	ENSP00000272198:T441I	T	+	2	0	PPFIA4	201296776	0.833000	0.29383	0.866000	0.34008	0.985000	0.73830	4.809000	0.62591	0.710000	0.31997	0.655000	0.94253	ACT		PASS	0.567	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		61	104	61	104	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204197299	204197299	+	Silent	SNP	T	T	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:204197299T>G	ENST00000272203.3	-	21	3259	c.2943A>C	c.(2941-2943)tcA>tcC	p.S981S	PLEKHA6_ENST00000414478.1_Silent_p.S1001S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	981								p.S981S(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTGGCTCTCTGAGTCCTGGG	0.632																																						uc001hau.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2941-2943)TCA>TCC		phosphoinositol 3-phosphate-binding protein-3							55.0	54.0	54.0					1																	204197299		2203	4300	6503	SO:0001819	synonymous_variant	22874							g.chr1:204197299T>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2943A>C	1.37:g.204197299T>G							p.S981S	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		21	3260	-	all_cancers(21;0.0222)|Breast(84;0.179)		981					A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	c.2943A>C	CCDS1444.1																																																																																				PASS	0.632	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		35	43	35	43	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235972415	235972415	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr1:235972415C>A	ENST00000389794.3	-	5	1877	c.1703G>T	c.(1702-1704)aGc>aTc	p.S568I	LYST_ENST00000536965.1_Missense_Mutation_p.S568I|LYST_ENST00000389793.2_Missense_Mutation_p.S568I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	568					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.S568I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GACACAAGTGCTGCTCAAGGA	0.453																																						uc001hxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(1702-1704)AGC>ATC		lysosomal trafficking regulator							115.0	109.0	111.0					1																	235972415		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972415C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1703G>T	1.37:g.235972415C>A	ENSP00000374444:p.Ser568Ile					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S568I	p.S568I	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1878	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	568					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.1703G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	7.057	0.565712	0.13560	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.69175	-0.38;-0.38;1.16	5.6	3.64	0.41730	.	0.588386	0.20806	N	0.085335	T	0.49236	0.1545	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.32071	0.355;0.213	B;B	0.30029	0.1;0.11	T	0.37979	-0.9682	10	0.32370	T	0.25	.	10.8008	0.46487	0.0:0.6087:0.3151:0.0762	.	568;568	Q99698-3;Q99698	.;LYST_HUMAN	I	568	ENSP00000374444:S568I;ENSP00000374443:S568I;ENSP00000438315:S568I	ENSP00000374443:S568I	S	-	2	0	LYST	234039038	0.019000	0.18553	0.917000	0.36280	0.294000	0.27393	0.827000	0.27421	1.323000	0.45263	0.650000	0.86243	AGC		PASS	0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			4	141	4	141	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1652209	1652209	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:1652209C>T	ENST00000252804.4	-	17	3393	c.3343G>A	c.(3343-3345)Gat>Aat	p.D1115N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1115					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D1115N(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGAAGCGGATCGATGCCGCCC	0.592																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(3343-3345)GAT>AAT		peroxidasin precursor							33.0	40.0	37.0					2																	1652209		2038	4169	6207	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652209C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3343G>A	2.37:g.1652209C>T	ENSP00000252804:p.Asp1115Asn						p.D1115N	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3407	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1115					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3343G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637319	0.87760	.	.	ENSG00000130508	ENST00000252804	T	0.76060	-0.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90179	0.4241	10	0.87932	D	0	-59.945	19.4069	0.94651	0.0:1.0:0.0:0.0	.	1115	Q92626	PXDN_HUMAN	N	1115	ENSP00000252804:D1115N	ENSP00000252804:D1115N	D	-	1	0	PXDN	1631216	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.734000	0.84928	2.588000	0.87417	0.650000	0.86243	GAT		PASS	0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		17	39	17	39	---	---	---	---
HS1BP3	64342	broad.mit.edu	37	2	20840876	20840876	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:20840876G>C	ENST00000304031.3	-	3	288	c.263C>G	c.(262-264)gCc>gGc	p.A88G	HS1BP3_ENST00000402541.1_Missense_Mutation_p.A88G|HS1BP3_ENST00000406618.3_Missense_Mutation_p.A88G	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	88	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)	p.A88G(1)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGAGGCTGGCTGCTGCATA	0.532																																						uc002rdw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(262-264)GCC>GGC		HCLS1 binding protein 3							173.0	173.0	173.0					2																	20840876		2203	4300	6503	SO:0001583	missense	64342				cell communication		phosphatidylinositol binding	g.chr2:20840876G>C		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.263C>G	2.37:g.20840876G>C	ENSP00000305193:p.Ala88Gly					HS1BP3_uc002rdx.2_Missense_Mutation_p.A88G|HS1BP3_uc002rdy.2_Missense_Mutation_p.A88G	p.A88G	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN			3	304	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		88			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	ENST00000304031.3	37	c.263C>G	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162677	0.78226	.	.	ENSG00000118960	ENST00000304031;ENST00000402541;ENST00000406618	T;T;T	0.40476	1.03;1.03;1.03	4.79	4.79	0.61399	Phox homologous domain (5);	0.153250	0.44688	D	0.000427	T	0.57755	0.2075	M	0.68317	2.08	0.36889	D	0.889778	D;D;D	0.63046	0.986;0.988;0.992	D;P;D	0.64410	0.922;0.794;0.925	T	0.61297	-0.7091	10	0.26408	T	0.33	-22.8093	13.2608	0.60104	0.0791:0.0:0.9209:0.0	.	88;88;88	B5MC96;F6TR53;Q53T59	.;.;H1BP3_HUMAN	G	88	ENSP00000305193:A88G;ENSP00000384984:A88G;ENSP00000385788:A88G	ENSP00000305193:A88G	A	-	2	0	HS1BP3	20704357	0.966000	0.33281	0.993000	0.49108	0.991000	0.79684	3.357000	0.52277	2.210000	0.71456	0.561000	0.74099	GCC		PASS	0.532	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		31	260	31	260	---	---	---	---
APOB	338	broad.mit.edu	37	2	21228898	21228898	+	Silent	SNP	A	A	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:21228898A>C	ENST00000233242.1	-	26	10969	c.10842T>G	c.(10840-10842)ccT>ccG	p.P3614P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3614					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.P3614P(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAAGGTCAGGGAAATCAT	0.493																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(10840-10842)CCT>CCG		apolipoprotein B precursor	Atorvastatin(DB01076)						74.0	68.0	70.0					2																	21228898		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228898A>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10842T>G	2.37:g.21228898A>C							p.P3614P	NM_000384	NP_000375	P04114	APOB_HUMAN			26	10970	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3614					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.10842T>G	CCDS1703.1																																																																																				PASS	0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			24	85	24	85	---	---	---	---
WDR43	23160	broad.mit.edu	37	2	29152454	29152454	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:29152454G>C	ENST00000407426.3	+	11	1371	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q	Y_RNA_ENST00000410292.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	439						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E482Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GGTTAGCATTGAAGAACGTCT	0.353																																						uc002rmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1315-1317)GAA>CAA		WD repeat domain 43							81.0	79.0	79.0					2																	29152454		1836	4095	5931	SO:0001583	missense	23160					nucleolus		g.chr2:29152454G>C	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1315G>C	2.37:g.29152454G>C	ENSP00000384302:p.Glu439Gln						p.E439Q	NM_015131	NP_055946	Q15061	WDR43_HUMAN			11	1347	+	Acute lymphoblastic leukemia(172;0.155)		439					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1315G>C	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061381	0.76187	.	.	ENSG00000163811	ENST00000407426	T	0.76839	-1.05	5.81	5.81	0.92471	.	0.049080	0.85682	D	0.000000	T	0.80232	0.4585	L	0.59436	1.845	0.54753	D	0.999983	P	0.49862	0.929	P	0.47118	0.538	T	0.77544	-0.2548	10	0.31617	T	0.26	-25.6348	20.0782	0.97758	0.0:0.0:1.0:0.0	.	439	Q15061	WDR43_HUMAN	Q	439	ENSP00000384302:E439Q	ENSP00000384302:E439Q	E	+	1	0	WDR43	29005958	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.079000	0.76829	2.746000	0.94184	0.655000	0.94253	GAA		PASS	0.353	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		26	38	26	38	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452225	43452225	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:43452225C>T	ENST00000282388.3	-	2	1011	c.718G>A	c.(718-720)Gat>Aat	p.D240N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	240					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D240N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCAACGCATCGCGCGTGCCA	0.746																																						uc002rsv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(718-720)GAT>AAT		zinc finger protein 36, C3H type-like 2							8.0	13.0	11.0					2																	43452225		2087	4165	6252	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452225C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.718G>A	2.37:g.43452225C>T	ENSP00000282388:p.Asp240Asn					LOC100129726_uc010ynx.1_5'Flank	p.D240N	NM_006887	NP_008818	P47974	TISD_HUMAN			2	1009	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	240					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.718G>A	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	9.356	1.066797	0.20067	.	.	ENSG00000152518	ENST00000282388	T	0.46063	0.88	3.84	2.95	0.34219	.	0.483859	0.17871	N	0.159164	T	0.19565	0.0470	N	0.14661	0.345	0.80722	D	1	P	0.39782	0.688	B	0.25291	0.059	T	0.03875	-1.0996	10	0.34782	T	0.22	-17.6614	9.8893	0.41281	0.2048:0.7952:0.0:0.0	.	240	P47974	TISD_HUMAN	N	240	ENSP00000282388:D240N	ENSP00000282388:D240N	D	-	1	0	ZFP36L2	43305729	0.770000	0.28543	0.123000	0.21794	0.003000	0.03518	3.246000	0.51414	0.800000	0.34041	-0.314000	0.08810	GAT		PASS	0.746	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		15	15	15	15	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44079798	44079798	+	Missense_Mutation	SNP	T	T	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:44079798T>A	ENST00000272286.2	+	6	845	c.755T>A	c.(754-756)gTg>gAg	p.V252E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	252	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.V252E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CACAACCTGGTGAAGACCTTG	0.582																																						uc002rtq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(754-756)GTG>GAG		ATP-binding cassette sub-family G member 8							86.0	79.0	82.0					2																	44079798		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079798T>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.755T>A	2.37:g.44079798T>A	ENSP00000272286:p.Val252Glu					ABCG8_uc010yoa.1_Missense_Mutation_p.V252E	p.V252E	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			6	845	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	252			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.755T>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498102	0.85069	.	.	ENSG00000143921	ENST00000272286	T	0.63417	-0.04	5.06	5.06	0.68205	ABC transporter-like (1);	0.114632	0.64402	D	0.000016	T	0.69958	0.3169	L	0.35593	1.075	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.72625	0.978;0.952	T	0.73965	-0.3816	10	0.87932	D	0	.	14.8386	0.70206	0.0:0.0:0.0:1.0	.	252;252	Q9H221-2;Q9H221	.;ABCG8_HUMAN	E	252	ENSP00000272286:V252E	ENSP00000272286:V252E	V	+	2	0	ABCG8	43933302	1.000000	0.71417	0.985000	0.45067	0.928000	0.56348	7.625000	0.83145	1.899000	0.54978	0.459000	0.35465	GTG		PASS	0.582	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		45	75	45	75	---	---	---	---
BMP10	27302	broad.mit.edu	37	2	69093080	69093080	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:69093080C>T	ENST00000295379.1	-	2	1116	c.958G>A	c.(958-960)Gga>Aga	p.G320R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	320					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.G320R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CAGTAGTTTCCTTTGGCGTTC	0.517																																						uc002sez.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(958-960)GGA>AGA		bone morphogenetic protein 10 preproprotein							75.0	75.0	75.0					2																	69093080		2203	4300	6503	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093080C>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.958G>A	2.37:g.69093080C>T	ENSP00000295379:p.Gly320Arg						p.G320R	NM_014482	NP_055297	O95393	BMP10_HUMAN			2	1117	-			320					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.958G>A	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896835	0.72639	.	.	ENSG00000163217	ENST00000295379	D	0.88896	-2.44	6.07	6.07	0.98685	Transforming growth factor-beta, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93845	0.7140	10	0.72032	D	0.01	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	320	O95393	BMP10_HUMAN	R	320	ENSP00000295379:G320R	ENSP00000295379:G320R	G	-	1	0	BMP10	68946584	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.920000	0.63390	2.884000	0.98904	0.655000	0.94253	GGA		PASS	0.517	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		32	50	32	50	---	---	---	---
TGFBRAP1	9392	broad.mit.edu	37	2	105886097	105886097	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:105886097C>T	ENST00000393359.2	-	11	2464	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.E680K			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	680					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.E680K(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGCGCCTTCTCATGCTCGCCC	0.642																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2038-2040)GAG>AAG		transforming growth factor, beta receptor							25.0	26.0	25.0					2																	105886097		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105886097C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2038G>A	2.37:g.105886097C>T	ENSP00000377027:p.Glu680Lys					TGFBRAP1_uc010fjc.2_Missense_Mutation_p.E449K|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.E680K	p.E680K	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			11	2122	-			680					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.2038G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859699	0.71834	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.18502	2.21;2.21	5.54	4.64	0.57946	.	0.279852	0.40302	N	0.001134	T	0.16938	0.0407	L	0.38175	1.15	0.42590	D	0.993248	B;B	0.26902	0.163;0.039	B;B	0.33121	0.111;0.158	T	0.04347	-1.0958	10	0.16896	T	0.51	-12.6771	16.1634	0.81734	0.0:0.8663:0.1337:0.0	.	135;680	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	K	680;680;135	ENSP00000377027:E680K;ENSP00000258449:E680K	ENSP00000258449:E680K	E	-	1	0	TGFBRAP1	105252529	1.000000	0.71417	0.990000	0.47175	0.794000	0.44872	5.759000	0.68785	1.302000	0.44855	0.462000	0.41574	GAG		PASS	0.642	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		16	13	16	13	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109103003	109103003	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:109103003A>G	ENST00000309863.6	+	16	4543	c.3829A>G	c.(3829-3831)Atc>Gtc	p.I1277V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1277					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.I1277V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAAGCACAAAATCCACGAGCA	0.458																																						uc002tec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3829-3831)ATC>GTC		GRIP and coiled-coil domain-containing 2							121.0	118.0	119.0					2																	109103003		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103003A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3829A>G	2.37:g.109103003A>G	ENSP00000307939:p.Ile1277Val					GCC2_uc002ted.2_Missense_Mutation_p.I1176V	p.I1277V	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			16	3983	+			1277			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3829A>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	3.692	-0.063406	0.07273	.	.	ENSG00000135968	ENST00000309863	T	0.27104	1.69	5.6	-0.407	0.12385	.	0.723730	0.13567	N	0.378328	T	0.11024	0.0269	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34775	-0.9815	10	0.17369	T	0.5	.	6.1942	0.20540	0.499:0.1328:0.3681:0.0	.	1277	Q8IWJ2	GCC2_HUMAN	V	1277	ENSP00000307939:I1277V	ENSP00000307939:I1277V	I	+	1	0	GCC2	108469435	0.005000	0.15991	0.001000	0.08648	0.958000	0.62258	0.208000	0.17415	-0.069000	0.12931	0.533000	0.62120	ATC		PASS	0.458	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		9	101	9	101	---	---	---	---
CYP27C1	339761	broad.mit.edu	37	2	127958804	127958804	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:127958804C>A	ENST00000335247.7	-	3	412	c.282G>T	c.(280-282)atG>atT	p.M94I	CYP27C1_ENST00000409327.1_Missense_Mutation_p.M94I	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	94						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.M94I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		AGGTCTTGAACATGCTAAACA	0.552																																						uc002tod.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)ATG>ATT		cytochrome P450, family 27, subfamily C,							117.0	116.0	116.0					2																	127958804		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127958804C>A	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.282G>T	2.37:g.127958804C>A	ENSP00000334128:p.Met94Ile						p.M94I	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	3	413	-	Colorectal(110;0.1)		94					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.282G>T	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673578	0.29693	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.68025	-0.3;-0.3	3.74	3.74	0.42951	.	0.180532	0.48767	D	0.000180	T	0.53142	0.1778	L	0.31926	0.97	0.31119	N	0.709016	B	0.20164	0.042	B	0.22880	0.042	T	0.53556	-0.8422	10	0.23302	T	0.38	-1.9383	11.9712	0.53065	0.1741:0.8258:0.0:0.0	.	94	Q4G0S4	C27C1_HUMAN	I	94	ENSP00000334128:M94I;ENSP00000387198:M94I	ENSP00000334128:M94I	M	-	3	0	CYP27C1	127675274	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	2.184000	0.42575	1.797000	0.52628	0.561000	0.74099	ATG		PASS	0.552	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		67	55	67	55	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130914945	130914945	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:130914945G>T	ENST00000409031.1	-	12	2241	c.1093C>A	c.(1093-1095)Cat>Aat	p.H365N	SMPD4_ENST00000431183.2_Missense_Mutation_p.H263N|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000452225.2_Missense_Mutation_p.H106N|SMPD4_ENST00000351288.6_Missense_Mutation_p.H336N|SMPD4_ENST00000339679.7_Missense_Mutation_p.H223N|SMPD4_ENST00000443958.2_Missense_Mutation_p.H29N|SMPD4_ENST00000453750.1_Missense_Mutation_p.H114N	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	326					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.H365N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ACCAACACATGCTCCTCAGTA	0.647																																						uc002tqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)CAT>AAT		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						29.0	27.0	28.0					2																	130914945		2199	4295	6494	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130914945G>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1093C>A	2.37:g.130914945G>T	ENSP00000386531:p.His365Asn					SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.H58N|SMPD4_uc010yzy.1_Missense_Mutation_p.H114N|SMPD4_uc010yzz.1_Missense_Mutation_p.H29N|SMPD4_uc002tqr.1_Missense_Mutation_p.H336N|SMPD4_uc002tqs.1_Missense_Mutation_p.H233N|SMPD4_uc002tqt.1_Missense_Mutation_p.H214N|SMPD4_uc010zaa.1_Missense_Mutation_p.H223N|SMPD4_uc010zab.1_Missense_Mutation_p.H263N|SMPD4_uc010zac.1_Missense_Mutation_p.H106N|SMPD4_uc010zad.1_Intron	p.H365N	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			12	1613	-	Colorectal(110;0.1)		326					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1093C>A	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.9|21.9	4.217768|4.217768	0.79352|0.79352	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000451542|ENST00000439886	.|.	.|.	.|.	3.71|3.71	3.71|3.71	0.42584|0.42584	.|.	0.054831|.	0.64402|.	D|.	0.000001|.	T|T	0.74351|0.74351	0.3705|0.3705	M|M	0.80183|0.80183	2.485|2.485	0.54753|0.54753	D|D	0.999982|0.999982	D;P;P;P;P;D;D;B|.	0.89917|.	0.996;0.646;0.804;0.557;0.557;0.974;1.0;0.417|.	D;B;B;B;B;P;D;B|.	0.69824|.	0.956;0.29;0.387;0.217;0.366;0.809;0.966;0.116|.	T|T	0.76602|0.76602	-0.2899|-0.2899	9|5	0.28530|.	T|.	0.3|.	.|.	13.0182|13.0182	0.58771|0.58771	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106;263;223;114;297;326;365;326|.	B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4|.	.;.;.;.;.;NSMA3_HUMAN;.;.|.	N|R	336;365;263;114;29;223;106;113|193	.|.	ENSP00000339721:H223N|.	H|S	-|-	1|3	0|2	SMPD4|SMPD4	130631415|130631415	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.812000|0.812000	0.45895|0.45895	9.467000|9.467000	0.97671|0.97671	1.605000|1.605000	0.50152|0.50152	0.449000|0.449000	0.29647|0.29647	CAT|AGC		PASS	0.647	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		11	12	11	12	---	---	---	---
IMP4	92856	broad.mit.edu	37	2	131103936	131103936	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:131103936G>C	ENST00000259239.3	+	9	1479	c.771G>C	c.(769-771)atG>atC	p.M257I	IMP4_ENST00000409935.1_Nonstop_Mutation_p.*249S	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	257	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)		p.M257I(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CAGTGTACATGATCCGTCTGG	0.627																																						uc002tra.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(769-771)ATG>ATC		IMP4, U3 small nucleolar ribonucleoprotein,							72.0	56.0	62.0					2																	131103936		2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103936G>C	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.771G>C	2.37:g.131103936G>C	ENSP00000259239:p.Met257Ile						p.M257I	NM_033416	NP_219484	Q96G21	IMP4_HUMAN			9	788	+	Colorectal(110;0.1)		257			Brix.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.771G>C	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.39|19.39	3.818195|3.818195	0.71028|0.71028	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000259239;ENST00000409649;ENST00000428740|ENST00000409935;ENST00000452955	T;T;T|.	0.39787|.	2.02;1.06;2.02|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Brix domain (3);Anticodon-binding (1);|.	0.164385|.	0.64402|.	D|.	0.000004|.	T|.	0.52693|.	0.1750|.	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	B|.	0.19073|.	0.033|.	B|.	0.19666|.	0.026|.	T|.	0.47086|.	-0.9144|.	10|.	0.72032|.	D|.	0.01|.	-55.0474|-55.0474	15.5438|15.5438	0.76077|0.76077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	257|.	Q96G21|.	IMP4_HUMAN|.	I|S	257;172;202|249;246	ENSP00000259239:M257I;ENSP00000386716:M172I;ENSP00000389701:M202I|.	ENSP00000259239:M257I|.	M|X	+|+	3|2	0|2	IMP4|IMP4	130820406|130820406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.673000|0.673000	0.39480|0.39480	6.541000|6.541000	0.73865|0.73865	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	ATG|TGA		PASS	0.627	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		7	3	7	3	---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157186681	157186681	+	Silent	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:157186681C>T	ENST00000339562.4	-	3	380	c.18G>A	c.(16-18)gcG>gcA	p.A6A	NR4A2_ENST00000409108.2_Silent_p.A6A|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Silent_p.A6A|NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000539077.1_Silent_p.A17A	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	6					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A6A(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACCCATACTGCGCCTGAACAC	0.537																																						uc002tyz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(16-18)GCG>GCA		nuclear receptor subfamily 4, group A, member 2							39.0	41.0	40.0					2																	157186681		2203	4300	6503	SO:0001819	synonymous_variant	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186681C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.18G>A	2.37:g.157186681C>T						NR4A2_uc002tyx.3_Intron|NR4A2_uc010zcf.1_Silent_p.A6A|NR4A2_uc010zcg.1_5'Flank	p.A6A	NM_006186	NP_006177	P43354	NR4A2_HUMAN			3	440	-			6					Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	c.18G>A	CCDS2201.1																																																																																				PASS	0.537	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			4	36	4	36	---	---	---	---
WIPF1	7456	broad.mit.edu	37	2	175440042	175440042	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:175440042C>T	ENST00000392547.2	-	4	347	c.248G>A	c.(247-249)gGa>gAa	p.G83E	WIPF1_ENST00000392546.2_Missense_Mutation_p.G83E|WIPF1_ENST00000409415.3_Missense_Mutation_p.G83E|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.G83E|WIPF1_ENST00000409891.1_Missense_Mutation_p.G83E|WIPF1_ENST00000272746.5_Missense_Mutation_p.G83E|AC010894.5_ENST00000454203.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.G83E	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	83	Gly-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.G83E(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						gccaccacctcctccgccaaa	0.617																																						uc002uiy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(247-249)GGA>GAA		WAS/WASL interacting protein family, member 1							68.0	75.0	72.0					2																	175440042		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175440042C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.248G>A	2.37:g.175440042C>T	ENSP00000376330:p.Gly83Glu					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.G83E|WIPF1_uc010fqt.1_Missense_Mutation_p.G83E|WIPF1_uc002ujc.1_Missense_Mutation_p.G83E|WIPF1_uc002uiz.2_Missense_Mutation_p.G83E|WIPF1_uc002ujb.1_Missense_Mutation_p.G83E|WIPF1_uc010zep.1_Missense_Mutation_p.G83E	p.G83E	NM_003387	NP_003378	O43516	WIPF1_HUMAN			5	580	-			83			Gly-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.248G>A	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572428	0.65765	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	D;D;D;D;D;D;D;T;T	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-1.51;1.08;1.08	4.98	4.08	0.47627	.	0.220161	0.36482	N	0.002577	D	0.94850	0.8336	L	0.54323	1.7	0.45621	D	0.998555	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;P	0.67548	0.952;0.927;0.952;0.896	D	0.93518	0.6859	10	0.34782	T	0.22	.	14.0831	0.64937	0.1604:0.8396:0.0:0.0	.	83;83;83;83	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	E	83;83;83;83;83;83;83;80;83;83	ENSP00000376330:G83E;ENSP00000272746:G83E;ENSP00000352802:G83E;ENSP00000376329:G83E;ENSP00000386431:G83E;ENSP00000387150:G83E;ENSP00000391785:G80E;ENSP00000386757:G83E;ENSP00000388454:G83E	ENSP00000272746:G83E	G	-	2	0	WIPF1	175148288	0.998000	0.40836	0.276000	0.24689	0.603000	0.37013	4.921000	0.63397	1.052000	0.40392	0.462000	0.41574	GGA		PASS	0.617	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		37	93	37	93	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179434109	179434109	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:179434109C>G	ENST00000591111.1	-	276	72051	c.71827G>C	c.(71827-71829)Gaa>Caa	p.E23943Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16644Q|TTN_ENST00000460472.2_Missense_Mutation_p.E16519Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E25584Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16711Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23016Q			Q8WZ42	TITIN_HUMAN	titin	23943	Ig-like 120.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E16644Q(1)|p.E23016Q(1)|p.E16519Q(1)|p.E23014Q(1)|p.E16711Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTGTTTTCTAATGTAAGC	0.413																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(69046-69048)GAA>CAA		titin isoform N2-A							115.0	109.0	111.0					2																	179434109		1883	4105	5988	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434109C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71827G>C	2.37:g.179434109C>G	ENSP00000465570:p.Glu23943Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E16711Q|TTN_uc010zfi.1_Missense_Mutation_p.E16644Q|TTN_uc010zfj.1_Missense_Mutation_p.E16519Q	p.E23016Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69270	-			23943					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.69046G>C		.	.	.	.	.	.	.	.	.	.	C	14.16	2.451289	0.43531	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79997	0.4543	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.978	P;P;P;P	0.60473	0.875;0.875;0.875;0.875	T	0.81180	-0.1050	9	0.87932	D	0	.	19.8644	0.96799	0.0:1.0:0.0:0.0	.	16519;16644;16711;23943	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	23016;16519;16711;16644;16517	ENSP00000343764:E23016Q;ENSP00000434586:E16519Q;ENSP00000340554:E16711Q;ENSP00000352154:E16644Q	ENSP00000340554:E16711Q	E	-	1	0	TTN	179142355	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	GAA		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		71	126	71	126	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179468920	179468920	+	Missense_Mutation	SNP	C	C	T	rs574313741		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:179468920C>T	ENST00000591111.1	-	232	49795	c.49571G>A	c.(49570-49572)cGc>cAc	p.R16524H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9225H|TTN_ENST00000460472.2_Missense_Mutation_p.R9100H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18165H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9292H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15597H|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16524					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R15597H(2)|p.R9225H(1)|p.R9292H(1)|p.R9100H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGGAAGGCGATAAGGATC	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18389	0.0		0.0	False		,,,				2504	0.001					uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(46789-46791)CGC>CAC		titin isoform N2-A							117.0	114.0	115.0					2																	179468920		1924	4136	6060	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468920C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49571G>A	2.37:g.179468920C>T	ENSP00000465570:p.Arg16524His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9292H|TTN_uc010zfi.1_Missense_Mutation_p.R9225H|TTN_uc010zfj.1_Missense_Mutation_p.R9100H	p.R15597H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47014	-			16524					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46790G>A		.	.	.	.	.	.	.	.	.	.	C	15.32	2.797470	0.50208	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	6.16	6.16	0.99307	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51176	0.1659	L	0.35542	1.07	0.40850	D	0.983744	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	P;P;P;P	0.45099	0.469;0.469;0.469;0.469	T	0.55477	-0.8135	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	9100;9225;9292;16524	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15597;9100;9292;9225;9100	ENSP00000343764:R15597H;ENSP00000434586:R9100H;ENSP00000340554:R9292H;ENSP00000352154:R9225H	ENSP00000340554:R9292H	R	-	2	0	TTN	179177165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.961000	0.70356	2.937000	0.99478	0.650000	0.86243	CGC		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	104	30	104	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179550282	179550282	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:179550282G>A	ENST00000591111.1	-	126	31628	c.31404C>T	c.(31402-31404)caC>caT	p.H10468H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.H10785H|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.H9541H|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H9541H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAAATAATGTGCAGCTTTT	0.348																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(28621-28623)CAC>CAT		titin isoform N2-A							114.0	109.0	110.0					2																	179550282		1905	4119	6024	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179550282G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31404C>T	2.37:g.179550282G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.H6202H|TTN_uc010fre.1_Intron	p.H9541H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		125	28847	-			10468					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.28623C>T																																																																																					PASS	0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	40	22	40	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179733966	179733966	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:179733966C>T	ENST00000420890.2	-	15	2389	c.2272G>A	c.(2272-2274)Gta>Ata	p.V758I	CCDC141_ENST00000295723.5_Missense_Mutation_p.V183I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	758								p.V758I(1)|p.V183I(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTTCTTTTACAGGGGCTCCT	0.378																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(547-549)GTA>ATA		coiled-coil domain containing 141							112.0	101.0	105.0					2																	179733966		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179733966C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2272G>A	2.37:g.179733966C>T	ENSP00000395995:p.Val758Ile						p.V183I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		5	604	-			183			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.547G>A		.	.	.	.	.	.	.	.	.	.	C	10.62	1.400697	0.25291	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.47528	0.84;1.45;1.45;1.44	5.33	2.51	0.30379	.	0.369544	0.22801	N	0.055473	T	0.26629	0.0651	N	0.24115	0.695	0.18873	N	0.999984	P	0.36909	0.573	B	0.33454	0.164	T	0.09100	-1.0690	10	0.34782	T	0.22	-6.2888	4.9987	0.14253	0.1518:0.6208:0.1464:0.081	.	183	Q6ZP82	CC141_HUMAN	I	758;202;183;758	ENSP00000395995:V758I;ENSP00000344627:V202I;ENSP00000295723:V183I;ENSP00000390190:V758I	ENSP00000295723:V183I	V	-	1	0	CCDC141	179442211	0.986000	0.35501	1.000000	0.80357	0.994000	0.84299	0.193000	0.17116	0.305000	0.22832	0.655000	0.94253	GTA		PASS	0.378	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		36	74	36	74	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187529339	187529339	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:187529339G>A	ENST00000261023.3	+	20	2318	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.D646N|ITGAV_ENST00000433736.2_Missense_Mutation_p.D636N	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	682					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.D682N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTGCAGGCTGATTTCATCGG	0.443																																					Melanoma(58;108 1995 6081)	uc002upq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(2044-2046)GAT>AAT		integrin alpha-V isoform 1 precursor							170.0	157.0	161.0					2																	187529339		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187529339G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2044G>A	2.37:g.187529339G>A	ENSP00000261023:p.Asp682Asn					ITGAV_uc010frs.2_Missense_Mutation_p.D646N|ITGAV_uc010zfv.1_Missense_Mutation_p.D636N	p.D682N	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	20	2320	+			682			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2044G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771457	0.69992	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.44881	0.91;0.91;0.91	6.17	5.29	0.74685	Integrin alpha-2 (1);	0.089441	0.85682	D	0.000000	T	0.68109	0.2965	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.73789	-0.3872	10	0.72032	D	0.01	.	17.652	0.88167	0.0:0.123:0.877:0.0	.	636;646;682	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	N	682;646;636	ENSP00000261023:D682N;ENSP00000364042:D646N;ENSP00000404291:D636N	ENSP00000261023:D682N	D	+	1	0	ITGAV	187237584	1.000000	0.71417	0.936000	0.37596	0.006000	0.05464	9.869000	0.99810	1.608000	0.50180	-0.176000	0.13171	GAT		PASS	0.443	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		48	264	48	264	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196722264	196722264	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:196722264A>G	ENST00000312428.6	-	44	8351	c.8251T>C	c.(8251-8253)Tca>Cca	p.S2751P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2751	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.S2751P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATGAAGTGACTGCAGAAAC	0.378																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(8251-8253)TCA>CCA		dynein, axonemal, heavy chain 7							91.0	87.0	88.0					2																	196722264		1822	4074	5896	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196722264A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8251T>C	2.37:g.196722264A>G	ENSP00000311273:p.Ser2751Pro						p.S2751P	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			44	8352	-			2751			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.8251T>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555860	0.65425	.	.	ENSG00000118997	ENST00000312428	T	0.80214	-1.35	5.27	5.27	0.74061	Dynein heavy chain, coiled coil stalk (1);	0.149916	0.42548	D	0.000681	D	0.92453	0.7604	H	0.97315	3.98	0.80722	D	1	D	0.58620	0.983	P	0.61132	0.884	D	0.94867	0.8027	10	0.72032	D	0.01	.	15.027	0.71677	1.0:0.0:0.0:0.0	.	2751	Q8WXX0	DYH7_HUMAN	P	2751	ENSP00000311273:S2751P	ENSP00000311273:S2751P	S	-	1	0	DNAH7	196430509	0.962000	0.33011	1.000000	0.80357	0.994000	0.84299	1.836000	0.39191	2.206000	0.71126	0.528000	0.53228	TCA		PASS	0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	126	3	126	---	---	---	---
METTL21A	151194	broad.mit.edu	37	2	208478081	208478081	+	Missense_Mutation	SNP	T	T	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:208478081T>G	ENST00000411432.1	-	4	562	c.346A>C	c.(346-348)Act>Cct	p.T116P	METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000426075.1_Missense_Mutation_p.T116P|METTL21A_ENST00000272839.3_Missense_Mutation_p.T134P|METTL21A_ENST00000448007.2_Missense_Mutation_p.T116P|METTL21A_ENST00000406927.2_Missense_Mutation_p.T116P|METTL21A_ENST00000442521.1_Missense_Mutation_p.T116P|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	116					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.T116P(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ACAGTTTTAGTTTGGATATGA	0.383																																						uc002vcf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)ACT>CCT		hypothetical protein LOC151194							84.0	81.0	82.0					2																	208478081		2203	4300	6503	SO:0001583	missense	151194					integral to membrane	methyltransferase activity	g.chr2:208478081T>G	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.346A>C	2.37:g.208478081T>G	ENSP00000415115:p.Thr116Pro					FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.T116P|FAM119A_uc002vcg.3_Missense_Mutation_p.T116P	p.T116P	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)	4	506	-			116					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.346A>C	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.106358	0.01828	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36	5.51	-2.2	0.06994	.	0.883088	0.10333	N	0.687271	T	0.05318	0.0141	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36286	-0.9754	10	0.23302	T	0.38	-0.3053	2.0656	0.03602	0.1626:0.1683:0.2414:0.4276	.	116	Q8WXB1	MT21A_HUMAN	P	116;116;134;116;116;116	ENSP00000415115:T116P;ENSP00000407622:T116P;ENSP00000272839:T134P;ENSP00000385481:T116P;ENSP00000403317:T116P;ENSP00000392062:T116P	ENSP00000272839:T134P	T	-	1	0	METTL21A	208186326	0.065000	0.20965	0.010000	0.14722	0.096000	0.18686	0.116000	0.15561	-1.021000	0.03350	-2.435000	0.00213	ACT		PASS	0.383	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		63	51	63	51	---	---	---	---
ABCB6	10058	broad.mit.edu	37	2	220083188	220083188	+	Missense_Mutation	SNP	T	T	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:220083188T>G	ENST00000265316.3	-	1	524	c.208A>C	c.(208-210)Atc>Ctc	p.I70L	ABCB6_ENST00000439002.2_Missense_Mutation_p.I70L	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	70					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.I70L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGGAGAGATGCGAGGGCCG	0.721																																						uc002vkc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(208-210)ATC>CTC		ATP-binding cassette, sub-family B, member 6							12.0	18.0	16.0					2																	220083188		2188	4273	6461	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220083188T>G	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.208A>C	2.37:g.220083188T>G	ENSP00000265316:p.Ile70Leu					ABCB6_uc010fwe.1_Missense_Mutation_p.I70L|ABCB6_uc010zku.1_RNA|ATG9A_uc002vkd.1_RNA	p.I70L	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	485	-		Renal(207;0.0474)	70					O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.208A>C	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	t	6.812	0.518906	0.13005	.	.	ENSG00000115657	ENST00000265316;ENST00000439002;ENST00000427013	T;T	0.76060	-0.99;-0.99	4.91	0.927	0.19437	.	0.409632	0.26677	N	0.023065	T	0.48390	0.1497	N	0.08118	0	0.22366	N	0.999161	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.37197	-0.9716	10	0.54805	T	0.06	-12.2123	4.704	0.12841	0.5315:0.2832:0.1082:0.0771	.	70;70	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	L	70	ENSP00000265316:I70L;ENSP00000394333:I70L	ENSP00000265316:I70L	I	-	1	0	ABCB6	219791432	0.871000	0.30034	0.002000	0.10522	0.178000	0.23041	1.212000	0.32394	0.050000	0.15949	-0.220000	0.12472	ATC		PASS	0.721	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		4	20	4	20	---	---	---	---
ATG9A	79065	broad.mit.edu	37	2	220089359	220089359	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:220089359C>T	ENST00000409618.1	-	8	1173	c.734G>A	c.(733-735)cGt>cAt	p.R245H	ATG9A_ENST00000409422.1_Missense_Mutation_p.R184H|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Missense_Mutation_p.R245H|ATG9A_ENST00000361242.4_Missense_Mutation_p.R245H			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	245					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)		p.R245H(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGAGACCACGGGTGAAGAA	0.552																																						uc002vke.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(733-735)CGT>CAT		APG9 autophagy 9-like 1							70.0	74.0	72.0					2																	220089359		2038	4185	6223	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089359C>T	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.734G>A	2.37:g.220089359C>T	ENSP00000386710:p.Arg245His					ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.R245H	p.R245H	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	920	-		Renal(207;0.0474)	245			Cytoplasmic (By similarity).		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.734G>A	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122098	0.56613	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.34667	1.77;1.77;1.77;1.35	5.21	5.21	0.72293	.	0.109606	0.64402	D	0.000008	T	0.50463	0.1617	L	0.61387	1.9	0.58432	D	0.999991	D	0.65815	0.995	P	0.52598	0.703	T	0.53795	-0.8388	10	0.59425	D	0.04	.	18.3815	0.90452	0.0:1.0:0.0:0.0	.	245	Q7Z3C6	ATG9A_HUMAN	H	245;245;245;184	ENSP00000379983:R245H;ENSP00000386710:R245H;ENSP00000355173:R245H;ENSP00000386535:R184H	ENSP00000355173:R245H	R	-	2	0	ATG9A	219797603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.054000	0.71096	2.424000	0.82194	0.655000	0.94253	CGT		PASS	0.552	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		21	60	21	60	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238234216	238234216	+	Missense_Mutation	SNP	C	C	A	rs113992704		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:238234216C>A	ENST00000295550.4	-	43	9932	c.9480G>T	c.(9478-9480)aaG>aaT	p.K3160N	COL6A3_ENST00000409809.1_Missense_Mutation_p.K2954N|COL6A3_ENST00000472056.1_Missense_Mutation_p.K2553N|COL6A3_ENST00000353578.4_Missense_Mutation_p.K2954N|COL6A3_ENST00000346358.4_Missense_Mutation_p.K2960N|COL6A3_ENST00000347401.3_Missense_Mutation_p.K2959N|COL6A3_ENST00000473258.1_5'UTR	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3160	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K3160N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGCGCAAACCTTTTCACATT	0.383																																						uc002vwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(9478-9480)AAG>AAT		alpha 3 type VI collagen isoform 1 precursor							180.0	183.0	182.0					2																	238234216		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238234216C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9480G>T	2.37:g.238234216C>A	ENSP00000295550:p.Lys3160Asn					COL6A3_uc002vwo.2_Missense_Mutation_p.K2954N|COL6A3_uc010znj.1_Missense_Mutation_p.K2553N|COL6A3_uc002vwj.2_Missense_Mutation_p.K541N	p.K3160N	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	43	9765	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	3160			Nonhelical region.|BPTI/Kunitz inhibitor.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.9480G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	5.280	0.236999	0.10023	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	5.4	0.483	0.16820	Proteinase inhibitor I2, Kunitz metazoa (6);	0.107097	0.40469	N	0.001083	T	0.40322	0.1112	L	0.38733	1.17	0.26049	N	0.981509	P;P;P	0.47841	0.901;0.879;0.901	P;B;P	0.45276	0.475;0.344;0.475	T	0.33701	-0.9858	10	0.62326	D	0.03	.	5.4843	0.16741	0.1264:0.4624:0.0:0.4113	.	2553;2954;3160	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	3160;2959;2954;2553;2954;2960	ENSP00000295550:K3160N;ENSP00000315609:K2959N;ENSP00000315873:K2954N;ENSP00000418285:K2553N;ENSP00000386844:K2954N;ENSP00000295546:K2960N	ENSP00000295550:K3160N	K	-	3	2	COL6A3	237898955	0.166000	0.22962	0.008000	0.14137	0.488000	0.33401	0.417000	0.21214	-0.206000	0.10203	-0.253000	0.11424	AAG		PASS	0.383	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		20	115	20	115	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18457567	18457567	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:18457567A>G	ENST00000338745.6	-	4	2181	c.447T>C	c.(445-447)ccT>ccC	p.P149P	SATB1_ENST00000417717.2_Silent_p.P149P|SATB1_ENST00000475083.1_5'UTR|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.P149P	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	149	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P149P(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGTAGCATCAGGGGCATCTG	0.403																																						uc003cbh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(445-447)CCT>CCC		special AT-rich sequence binding protein 1							127.0	118.0	121.0					3																	18457567		2203	4300	6503	SO:0001819	synonymous_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18457567A>G		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.447T>C	3.37:g.18457567A>G						SATB1_uc003cbi.2_Silent_p.P149P|SATB1_uc003cbj.2_Silent_p.P149P	p.P149P	NM_002971	NP_002962	Q01826	SATB1_HUMAN			4	2182	-			149			PDZ-like dimerization domain.		B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	c.447T>C	CCDS2631.1																																																																																				PASS	0.403	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		3	137	3	137	---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37514869	37514869	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:37514869G>T	ENST00000264741.5	+	3	594	c.338G>T	c.(337-339)gGa>gTa	p.G113V	ITGA9_ENST00000422441.1_Missense_Mutation_p.G113V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	113					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G113V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACGTCCTGCGGAAAGACCTGC	0.602																																						uc003chd.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|pancreas(1)|lung(1)|skin(1)	6						c.(337-339)GGA>GTA		integrin, alpha 9 precursor							58.0	58.0	58.0					3																	37514869		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37514869G>T	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.338G>T	3.37:g.37514869G>T	ENSP00000264741:p.Gly113Val					ITGA9_uc003chc.2_Missense_Mutation_p.G113V	p.G113V	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	3	391	+			113			Extracellular (Potential).|FG-GAP 2.		Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.338G>T	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563116	0.86335	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.57107	0.42;0.42	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	L	0.58302	1.8	0.80722	D	1	P;D	0.71674	0.896;0.998	B;P	0.61003	0.41;0.882	T	0.70008	-0.4990	10	0.87932	D	0	.	18.4791	0.90804	0.0:0.0:1.0:0.0	.	113;113	Q13797;E9PDS3	ITA9_HUMAN;.	V	113	ENSP00000397258:G113V;ENSP00000264741:G113V	ENSP00000264741:G113V	G	+	2	0	ITGA9	37489873	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	8.636000	0.91010	2.642000	0.89623	0.650000	0.86243	GGA		PASS	0.602	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		41	16	41	16	---	---	---	---
CCR1	1230	broad.mit.edu	37	3	46245443	46245443	+	Missense_Mutation	SNP	A	A	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:46245443A>T	ENST00000296140.3	-	2	487	c.362T>A	c.(361-363)aTc>aAc	p.I121N	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	121					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.I121N(1)		autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GATGAAAAAGATCTCGCTGTA	0.507																																						uc003cph.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(361-363)ATC>AAC		chemokine (C-C motif) receptor 1							103.0	101.0	102.0					3																	46245443		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245443A>T		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.362T>A	3.37:g.46245443A>T	ENSP00000296140:p.Ile121Asn					CCR3_uc003cpg.1_Intron	p.I121N	NM_001295	NP_001286	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	433	-			121			Helical; Name=3; (Potential).		Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.362T>A	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859690	0.71834	.	.	ENSG00000163823	ENST00000296140	T	0.76709	-1.04	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.169199	0.40385	N	0.001110	D	0.87022	0.6074	M	0.82132	2.575	0.58432	D	0.999999	D	0.67145	0.996	D	0.76071	0.987	D	0.87925	0.2706	10	0.56958	D	0.05	.	11.4505	0.50149	0.8494:0.1505:0.0:0.0	.	121	P32246	CCR1_HUMAN	N	121	ENSP00000296140:I121N	ENSP00000296140:I121N	I	-	2	0	CCR1	46220447	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.936000	0.70153	1.955000	0.56771	0.533000	0.62120	ATC		PASS	0.507	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		38	34	38	34	---	---	---	---
CCRL2	9034	broad.mit.edu	37	3	46449908	46449908	+	Missense_Mutation	SNP	G	G	A	rs368305696		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:46449908G>A	ENST00000399036.3	+	2	690	c.338G>A	c.(337-339)gGc>gAc	p.G113D	CCRL2_ENST00000400880.3_Missense_Mutation_p.G113D|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Missense_Mutation_p.G113D|CCRL2_ENST00000357392.4_Missense_Mutation_p.G125D	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	113					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)	p.G113D(1)		lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TACTTCGTGGGCCTGTACAGT	0.483																																						uc003cpp.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)GGC>GAC		chemokine (C-C motif) receptor-like 2 isoform 1		G	ASP/GLY,ASP/GLY	0,3998		0,0,1999	100.0	96.0	98.0		374,338	5.2	0.0	3		98	1,8303		0,1,4151	no	missense,missense	CCRL2	NM_001130910.1,NM_003965.4	94,94	0,1,6150	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	125/357,113/345	46449908	1,12301	1999	4152	6151	SO:0001583	missense	9034				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	g.chr3:46449908G>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.338G>A	3.37:g.46449908G>A	ENSP00000381994:p.Gly113Asp					CCRL2_uc010hjg.2_Missense_Mutation_p.G125D|CCRL2_uc010hjf.2_Missense_Mutation_p.G113D	p.G113D	NM_003965	NP_003956	O00421	CCRL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	623	+			113			Helical; Name=3; (Potential).		B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.338G>A	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247290	0.59103	0.0	1.2E-4	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.70937	0.3281	H	0.94306	3.52	0.20074	N	0.999938	D;D	0.89917	1.0;1.0	D;D	0.79108	0.986;0.992	T	0.69105	-0.5233	10	0.87932	D	0	.	9.8853	0.41257	0.0931:0.0:0.9069:0.0	.	125;113	O00421-2;O00421	.;CCRL2_HUMAN	D	113;125;113;113;113	ENSP00000381994:G113D;ENSP00000349967:G125D;ENSP00000383677:G113D;ENSP00000414957:G113D;ENSP00000383678:G113D	ENSP00000349967:G125D	G	+	2	0	CCRL2	46424912	1.000000	0.71417	0.027000	0.17364	0.034000	0.12701	4.126000	0.57937	2.431000	0.82371	0.491000	0.48974	GGC		PASS	0.483	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			17	106	17	106	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48684274	48684274	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:48684274G>C	ENST00000164024.4	-	21	7497	c.7217C>G	c.(7216-7218)tCc>tGc	p.S2406C	CELSR3_ENST00000544264.1_Missense_Mutation_p.S2411C|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2406					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S2406C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AATGATAATGGAGATCCCAGG	0.612																																						uc003cul.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(7216-7218)TCC>TGC		cadherin EGF LAG seven-pass G-type receptor 3							40.0	41.0	40.0					3																	48684274		2190	4286	6476	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48684274G>C	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7217C>G	3.37:g.48684274G>C	ENSP00000164024:p.Ser2406Cys					CELSR3_uc003cuf.1_Missense_Mutation_p.S2476C|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.S389C	p.S2406C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7498	-			2406			Extracellular (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7217C>G	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.626046	0.87560	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.09817	2.94;2.94	5.4	5.4	0.78164	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.24314	0.0589	L	0.36672	1.1	0.41898	D	0.990404	D;D	0.69078	0.984;0.997	P;D	0.63113	0.852;0.911	T	0.00701	-1.1603	9	0.87932	D	0	.	19.1857	0.93642	0.0:0.0:1.0:0.0	.	2406;2476	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	2406;2411	ENSP00000164024:S2406C;ENSP00000445694:S2411C	ENSP00000164024:S2406C	S	-	2	0	CELSR3	48659278	1.000000	0.71417	0.988000	0.46212	0.908000	0.53690	6.318000	0.72866	2.547000	0.85894	0.556000	0.70494	TCC		PASS	0.612	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		14	16	14	16	---	---	---	---
DALRD3	55152	broad.mit.edu	37	3	49053093	49053093	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:49053093A>G	ENST00000341949.4	-	12	1566	c.1560T>C	c.(1558-1560)ctT>ctC	p.L520L	DALRD3_ENST00000440857.1_Missense_Mutation_p.S382P|DALRD3_ENST00000395462.4_Silent_p.L353L|DALRD3_ENST00000313778.5_Silent_p.L353L|DALRD3_ENST00000441576.2_Missense_Mutation_p.S512P|WDR6_ENST00000608424.1_3'UTR|WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000496568.1_5'Flank	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	520					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)	p.L353L(1)|p.L520L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCTCTCAGAAGCTGCAGGC	0.562																																						uc003cvk.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1558-1560)CTT>CTC		DALR anticodon binding domain containing 3							81.0	81.0	81.0					3																	49053093		2203	4300	6503	SO:0001819	synonymous_variant	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49053093A>G	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1560T>C	3.37:g.49053093A>G						WDR6_uc003cvj.2_3'UTR|WDR6_uc011bby.1_3'UTR|WDR6_uc010hkn.2_3'UTR|WDR6_uc011bbz.1_3'UTR|DALRD3_uc003cvl.1_Missense_Mutation_p.S512P|DALRD3_uc003cvm.1_Silent_p.L353L|DALRD3_uc010hko.1_Missense_Mutation_p.S382P	p.L520L	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	12	1580	-			520					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Silent	SNP	ENST00000341949.4	37	c.1560T>C	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203295	0.79127	.	.	ENSG00000178149	ENST00000438585;ENST00000441576;ENST00000440857	T;T	0.52526	0.73;0.66	5.55	-7.51	0.01346	.	.	.	.	.	T	0.23611	0.0571	.	.	.	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.12156	0.007;0.007	T	0.14420	-1.0473	7	.	.	.	-15.1468	6.6165	0.22780	0.1517:0.5554:0.2089:0.0839	.	382;512	C9JJG6;Q5D0E6-2	.;.	P	162;512;382	ENSP00000410623:S512P;ENSP00000403770:S382P	.	S	-	1	0	DALRD3	49028097	0.961000	0.32948	0.945000	0.38365	0.982000	0.71751	0.141000	0.16076	-0.504000	0.06577	0.454000	0.30748	TCT		PASS	0.562	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		26	40	26	40	---	---	---	---
TMPRSS7	344805	broad.mit.edu	37	3	111766781	111766781	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:111766781C>A	ENST00000452346.2	+	7	929	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.S183Y			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	309	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S183Y(1)|p.S38Y(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTTACGACTCCCTTTTGCCC	0.468																																						uc010hqb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(547-549)TCC>TAC		transmembrane protease, serine 7							94.0	94.0	94.0					3																	111766781		2099	4221	6320	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111766781C>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.926C>A	3.37:g.111766781C>A	ENSP00000398236:p.Ser309Tyr					TMPRSS7_uc011bhr.1_Missense_Mutation_p.S38Y	p.S183Y	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			5	718	+			309			Extracellular (Potential).|CUB 1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.548C>A		.	.	.	.	.	.	.	.	.	.	C	25.6	4.651990	0.88056	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127;ENST00000460599	T;T;T	0.21543	2.2;2.2;2.0	5.33	5.33	0.75918	CUB (5);	0.236054	0.36374	N	0.002638	T	0.36468	0.0968	L	0.57536	1.79	0.50467	D	0.999876	D;P	0.52996	0.957;0.853	P;P	0.54210	0.745;0.502	T	0.06607	-1.0817	10	0.72032	D	0.01	.	16.3089	0.82862	0.0:1.0:0.0:0.0	.	309;183	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	Y	309;297;283;183;172	ENSP00000398236:S309Y;ENSP00000411645:S183Y;ENSP00000447563:S172Y	ENSP00000411645:S183Y	S	+	2	0	TMPRSS7	113249471	1.000000	0.71417	0.942000	0.38095	0.868000	0.49771	6.656000	0.74396	2.644000	0.89710	0.563000	0.77884	TCC		PASS	0.468	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		17	70	17	70	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111901040	111901040	+	Missense_Mutation	SNP	T	T	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:111901040T>G	ENST00000305815.5	-	21	2841	c.2589A>C	c.(2587-2589)gaA>gaC	p.E863D	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E815D	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	863					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.E863D(1)									ATAGAACTTCTTCAACAGTAA	0.284																																						uc003dyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(2587-2589)GAA>GAC		sperm-specific sodium proton exchanger							72.0	79.0	76.0					3																	111901040		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111901040T>G	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2589A>C	3.37:g.111901040T>G	ENSP00000306627:p.Glu863Asp					SLC9A10_uc011bhu.1_Missense_Mutation_p.E126D|SLC9A10_uc010hqc.2_Missense_Mutation_p.E815D	p.E863D	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			21	2811	-			863					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2589A>C	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	0.746	-0.774515	0.02951	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79554	-1.27;-1.28	5.72	-4.83	0.03161	Cyclic nucleotide-binding-like (1);	1.005180	0.07999	N	0.988405	T	0.63295	0.2499	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.15484	0.013;0.003	T	0.49532	-0.8930	10	0.09843	T	0.71	.	6.5491	0.22423	0.3807:0.0:0.3507:0.2686	.	815;863	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	D	863;815	ENSP00000306627:E863D;ENSP00000420688:E815D	ENSP00000306627:E863D	E	-	3	2	SLC9A10	113383730	0.000000	0.05858	0.002000	0.10522	0.196000	0.23810	-1.685000	0.01930	-0.589000	0.05874	0.438000	0.28831	GAA		PASS	0.284	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		68	73	68	73	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112357363	112357363	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:112357363G>A	ENST00000206423.3	-	2	2343	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	CCDC80_ENST00000439685.2_Missense_Mutation_p.R464W|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	464					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R464W(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CGGTTGTCCCGGAAACGGCCT	0.612																																						uc003dzf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1390-1392)CGG>TGG		steroid-sensitive protein 1 precursor							69.0	69.0	69.0					3																	112357363		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357363G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1390C>T	3.37:g.112357363G>A	ENSP00000206423:p.Arg464Trp					CCDC80_uc011bhv.1_Missense_Mutation_p.R464W|CCDC80_uc003dzg.2_Missense_Mutation_p.R464W|CCDC80_uc003dzh.1_Missense_Mutation_p.R464W	p.R464W	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	1608	-			464					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1390C>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836624	0.71373	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.49720	0.77;0.77	5.15	4.28	0.50868	.	0.245932	0.30840	N	0.008767	T	0.30696	0.0773	L	0.27053	0.805	0.35076	D	0.762965	B;B;B	0.15930	0.015;0.009;0.009	B;B;B	0.10450	0.005;0.003;0.002	T	0.35847	-0.9772	10	0.87932	D	0	-11.1142	3.9815	0.09497	0.0849:0.1313:0.5812:0.2026	.	475;464;464	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	W	464;464;92	ENSP00000206423:R464W;ENSP00000411814:R464W	ENSP00000206423:R464W	R	-	1	2	CCDC80	113840053	0.993000	0.37304	0.999000	0.59377	0.990000	0.78478	1.805000	0.38883	1.413000	0.46997	0.555000	0.69702	CGG		PASS	0.612	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		40	51	40	51	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169824720	169824720	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:169824720T>C	ENST00000494943.1	-	12	2400	c.2332A>G	c.(2332-2334)Atg>Gtg	p.M778V	PHC3_ENST00000467570.1_Missense_Mutation_p.M737V|PHC3_ENST00000495893.2_Missense_Mutation_p.M790V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	778					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.M759V(1)|p.M790V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCACTGTCCATTTCTTCTAAT	0.333																																						uc010hws.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2332-2334)ATG>GTG		polyhomeotic like 3							91.0	81.0	84.0					3																	169824720		1817	4074	5891	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169824720T>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2332A>G	3.37:g.169824720T>C	ENSP00000420271:p.Met778Val					PHC3_uc003fgl.2_Missense_Mutation_p.M790V|PHC3_uc011bpq.1_Missense_Mutation_p.M737V	p.M778V	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		12	2396	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		778			FCS-type.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.2332A>G		.	.	.	.	.	.	.	.	.	.	T	12.88	2.069919	0.36566	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	Zinc finger, FCS-type (1);	0.262826	0.40144	N	0.001176	T	0.27765	0.0683	L	0.36672	1.1	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.10450	0.005;0.002;0.004	T	0.03166	-1.1065	10	0.28530	T	0.3	-15.987	16.6245	0.84952	0.0:0.0:0.0:1.0	.	737;778;790	E7EX82;Q8NDX5;Q8NDX5-7	.;PHC3_HUMAN;.	V	778;790;737	ENSP00000420271:M778V;ENSP00000420294:M790V	ENSP00000419089:M737V	M	-	1	0	PHC3	171307414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.310000	0.65780	2.323000	0.78572	0.528000	0.53228	ATG		PASS	0.333	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		13	142	13	142	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183904012	183904012	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:183904012A>G	ENST00000429586.2	+	1	202	c.17A>G	c.(16-18)gAa>gGa	p.E6G	ABCF3_ENST00000292808.5_Missense_Mutation_p.E6G|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	6					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E6G(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTTGCGCCGAAATCCTGCGG	0.647																																						uc003fmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(16-18)GAA>GGA		ATP-binding cassette, sub-family F (GCN20),							66.0	64.0	65.0					3																	183904012		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183904012A>G	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.17A>G	3.37:g.183904012A>G	ENSP00000411471:p.Glu6Gly					ABCF3_uc003fna.2_Missense_Mutation_p.E6G|ABCF3_uc003fnb.2_5'Flank	p.E6G	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	150	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		6					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.17A>G	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477182	0.63849	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92545	-3.06;-3.05	5.39	5.39	0.77823	.	0.172566	0.49916	D	0.000122	D	0.88901	0.6563	L	0.52573	1.65	0.42219	D	0.991848	B;B	0.26902	0.163;0.06	B;B	0.29862	0.108;0.034	D	0.85532	0.1210	10	0.30078	T	0.28	-9.9492	11.053	0.47901	0.8613:0.0:0.0:0.1387	.	6;6	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	G	6	ENSP00000411471:E6G;ENSP00000292808:E6G	ENSP00000292808:E6G	E	+	2	0	ABCF3	185386706	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.400000	0.73252	2.037000	0.60232	0.379000	0.24179	GAA		PASS	0.647	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		13	142	13	142	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184580719	184580719	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr3:184580719G>C	ENST00000437079.3	+	16	1430	c.1259G>C	c.(1258-1260)aGc>aCc	p.S420T	VPS8_ENST00000287546.4_Missense_Mutation_p.S420T|VPS8_ENST00000446204.2_Missense_Mutation_p.S418T|VPS8_ENST00000436792.2_Missense_Mutation_p.S418T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	420							zinc ion binding (GO:0008270)	p.S420T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CTCTTAGACAGCGTAGAGAAG	0.433																																						uc003fpb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1252-1254)AGC>ACC		vacuolar protein sorting 8 homolog isoform b							126.0	127.0	127.0					3																	184580719		2040	4218	6258	SO:0001583	missense	23355						zinc ion binding	g.chr3:184580719G>C	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1259G>C	3.37:g.184580719G>C	ENSP00000397879:p.Ser420Thr					VPS8_uc010hyd.1_Missense_Mutation_p.S418T	p.S418T	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		15	1424	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		420					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.1253G>C	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949292	0.18356	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	6.01	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	N	0.19112	0.55	0.54753	D	0.999985	P;B	0.51933	0.949;0.234	P;B	0.45881	0.496;0.061	T	0.04413	-1.0953	10	0.11794	T	0.64	-0.7477	15.4436	0.75208	0.0666:0.0:0.9334:0.0	.	418;418	Q8N3P4-2;Q8N3P4-3	.;.	T	420;420;418;418	ENSP00000287546:S420T;ENSP00000397879:S420T;ENSP00000404704:S418T;ENSP00000405483:S418T	ENSP00000287546:S420T	S	+	2	0	VPS8	186063413	1.000000	0.71417	0.937000	0.37676	0.987000	0.75469	7.925000	0.87563	1.555000	0.49500	0.655000	0.94253	AGC		PASS	0.433	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		36	340	36	340	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1821200	1821200	+	Splice_Site	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr4:1821200C>A	ENST00000302787.2	-	11	1905		c.e11-1			NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1						cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.?(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTCTTCCTCCTGGGATAAAA	0.522																																						uc003gdv.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e11-1		leucine zipper-EF-hand containing transmembrane							81.0	77.0	78.0					4																	1821200		2203	4300	6503	SO:0001630	splice_region_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1821200C>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1609-1G>T	4.37:g.1821200C>A							p.E537_splice	NM_012318	NP_036450	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		11	1906	-								B4DED2|Q9UF65	Splice_Site	SNP	ENST00000302787.2	37	c.1609_splice	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	c	12.45	1.942520	0.34283	.	.	ENSG00000168924	ENST00000302787	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3162	0.90221	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LETM1	1790998	1.000000	0.71417	0.925000	0.36789	0.016000	0.09150	6.700000	0.74619	2.407000	0.81776	0.655000	0.94253	.		PASS	0.522	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1		Intron	30	77	30	77	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3240265	3240265	+	Missense_Mutation	SNP	A	A	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr4:3240265A>C	ENST00000355072.5	+	65	9128	c.8983A>C	c.(8983-8985)Aac>Cac	p.N2995H		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2995					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.N2995H(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGACATCATGAACAAAGTCAT	0.547																																						uc011bvq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(8989-8991)AAC>CAC		huntingtin							82.0	88.0	86.0					4																	3240265		1994	4172	6166	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3240265A>C	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8983A>C	4.37:g.3240265A>C	ENSP00000347184:p.Asn2995His						p.N2997H	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	66	9134	+		all_epithelial(65;0.18)	2995					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.8989A>C	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.859632	0.91433	.	.	ENSG00000197386	ENST00000355072	T	0.68765	-0.35	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83602	0.0129	10	0.87932	D	0	.	14.1009	0.65054	1.0:0.0:0.0:0.0	.	2995	P42858	HD_HUMAN	H	2995	ENSP00000347184:N2995H	ENSP00000347184:N2995H	N	+	1	0	HTT	3210063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	1.921000	0.55644	0.455000	0.32223	AAC		PASS	0.547	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		16	37	16	37	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895454	42895454	+	Missense_Mutation	SNP	T	T	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr4:42895454T>A	ENST00000399770.2	+	1	171	c.171T>A	c.(169-171)gaT>gaA	p.D57E	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	57					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.D57E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GACTAGGTGATTCCGATGGAC	0.502																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GAT>GAA		glutaredoxin, cysteine rich 1							179.0	185.0	183.0					4																	42895454		2025	4198	6223	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895454T>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.171T>A	4.37:g.42895454T>A	ENSP00000382670:p.Asp57Glu						p.D57E	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	171	+			57						Missense_Mutation	SNP	ENST00000399770.2	37	c.171T>A	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	0.061	-1.222947	0.01530	.	.	ENSG00000215203	ENST00000399770	T	0.30981	1.51	5.34	0.964	0.19655	.	0.543529	0.17388	N	0.176029	T	0.06735	0.0172	N	0.00926	-1.1	0.25462	N	0.987909	B	0.02656	0.0	B	0.01281	0.0	T	0.37103	-0.9720	10	0.02654	T	1	-5.0797	3.9831	0.09503	0.0953:0.2168:0.5085:0.1795	.	57	A8MXD5	GRCR1_HUMAN	E	57	ENSP00000382670:D57E	ENSP00000382670:D57E	D	+	3	2	GRXCR1	42590211	0.978000	0.34361	0.995000	0.50966	0.217000	0.24651	0.062000	0.14389	0.294000	0.22547	-0.297000	0.09499	GAT		PASS	0.502	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		124	98	124	98	---	---	---	---
SPARCL1	8404	broad.mit.edu	37	4	88415203	88415203	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr4:88415203G>A	ENST00000282470.6	-	4	1219	c.749C>T	c.(748-750)cCa>cTa	p.P250L	SPARCL1_ENST00000418378.1_Missense_Mutation_p.P250L|SPARCL1_ENST00000503414.1_Missense_Mutation_p.P125L	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	250					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.P250L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TACTTGAGTTGGTTGATCAGA	0.418																																						uc010ikm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(748-750)CCA>CTA		SPARC-like 1 precursor							313.0	306.0	309.0					4																	88415203		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415203G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.749C>T	4.37:g.88415203G>A	ENSP00000282470:p.Pro250Leu					SPARCL1_uc011cdc.1_Missense_Mutation_p.P125L|SPARCL1_uc003hqs.3_Missense_Mutation_p.P250L|SPARCL1_uc011cdd.1_Missense_Mutation_p.P125L|SPARCL1_uc003hqt.2_Missense_Mutation_p.P250L	p.P250L	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1321	-			250					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.749C>T	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978176	0.53720	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.39592	1.55;1.55;1.07	5.1	4.25	0.50352	.	0.597236	0.18012	N	0.154509	T	0.32102	0.0818	L	0.36672	1.1	0.45118	D	0.998138	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09930	-1.0652	10	0.39692	T	0.17	-5.586	10.4061	0.44258	0.0933:0.0:0.9067:0.0	.	250;250	Q8N4S1;Q14515	.;SPRL1_HUMAN	L	250;250;125;125	ENSP00000282470:P250L;ENSP00000414856:P250L;ENSP00000422903:P125L	ENSP00000282470:P250L	P	-	2	0	SPARCL1	88634227	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.000000	0.57039	1.462000	0.47948	0.655000	0.94253	CCA		PASS	0.418	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			148	250	148	250	---	---	---	---
ABCG2	9429	broad.mit.edu	37	4	89052230	89052230	+	Missense_Mutation	SNP	T	T	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr4:89052230T>G	ENST00000237612.3	-	5	1059	c.514A>C	c.(514-516)Aaa>Caa	p.K172Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.K172Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	172	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.K172Q(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TCTGCCACTTTATCCAGACCT	0.403																																						uc003hrg.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(514-516)AAA>CAA		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						245.0	221.0	229.0					4																	89052230		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052230T>G	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.514A>C	4.37:g.89052230T>G	ENSP00000237612:p.Lys172Gln					ABCG2_uc003hrh.2_Missense_Mutation_p.K172Q|ABCG2_uc003hrf.2_Missense_Mutation_p.K42Q	p.K172Q	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	5	1007	-		Hepatocellular(203;0.114)	172			ABC transporter.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.514A>C	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282450	0.59867	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	D;D	0.85088	-1.94;-1.94	5.37	4.19	0.49359	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.043522	0.85682	D	0.000000	T	0.80854	0.4703	L	0.40543	1.245	0.48975	D	0.999739	P;P;P	0.47106	0.753;0.89;0.571	B;P;B	0.44673	0.288;0.457;0.285	T	0.79356	-0.1837	10	0.46703	T	0.11	-23.4839	11.0417	0.47835	0.0:0.0735:0.0:0.9265	.	172;172;172	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	Q	172	ENSP00000426917:K172Q;ENSP00000237612:K172Q	ENSP00000237612:K172Q	K	-	1	0	ABCG2	89271254	1.000000	0.71417	0.762000	0.31397	0.941000	0.58515	3.915000	0.56409	0.993000	0.38866	0.533000	0.62120	AAA		PASS	0.403	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		68	171	68	171	---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148653489	148653489	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr4:148653489C>A	ENST00000336498.3	+	1	276	c.37C>A	c.(37-39)Ctc>Atc	p.L13I		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.L13I(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CGACTGCTACCTCGACAGCCC	0.657																																						uc003ilf.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)|lung(1)	4						c.(37-39)CTC>ATC		Rho GTPase activating protein 10							35.0	34.0	35.0					4																	148653489		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148653489C>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.37C>A	4.37:g.148653489C>A	ENSP00000336923:p.Leu13Ile					ARHGAP10_uc003ile.1_Missense_Mutation_p.L13I	p.L13I	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	1	37	+	all_hematologic(180;0.151)	Renal(17;0.0166)	13			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.37C>A	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541646	0.65085	.	.	ENSG00000071205	ENST00000336498	T	0.38077	1.16	4.39	3.54	0.40534	.	0.080093	0.52532	D	0.000071	T	0.54565	0.1866	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.57751	-0.7757	10	0.66056	D	0.02	.	12.1554	0.54074	0.0:0.9145:0.0:0.0854	.	13	A1A4S6	RHG10_HUMAN	I	13	ENSP00000336923:L13I	ENSP00000336923:L13I	L	+	1	0	ARHGAP10	148872939	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	2.758000	0.47565	0.828000	0.34709	0.460000	0.39030	CTC		PASS	0.657	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		9	25	9	25	---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148968149	148968149	+	Missense_Mutation	SNP	C	C	G	rs149308358		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr4:148968149C>G	ENST00000336498.3	+	20	2213	c.1974C>G	c.(1972-1974)gaC>gaG	p.D658E	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.D307E	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1363					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.D658E(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CTGGACCAGACAAAAACCACC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17249	0.0		0.0	False		,,,				2504	0.0					uc003ilf.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)|lung(1)	4						c.(1972-1974)GAC>GAG		Rho GTPase activating protein 10		C	GLU/ASP	3,4403	6.2+/-15.9	0,3,2200	83.0	83.0	83.0		1974	-0.0	0.8	4	dbSNP_134	83	0,8600		0,0,4300	yes	missense	ARHGAP10	NM_024605.3	45	0,3,6500	GG,GC,CC		0.0,0.0681,0.0231	benign	658/787	148968149	3,13003	2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148968149C>G	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1974C>G	4.37:g.148968149C>G	ENSP00000336923:p.Asp658Glu					ARHGAP10_uc003ilg.2_Missense_Mutation_p.D307E|ARHGAP10_uc003ilh.2_Missense_Mutation_p.D239E|ARHGAP10_uc003ili.2_Missense_Mutation_p.D91E	p.D658E	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	20	1974	+	all_hematologic(180;0.151)	Renal(17;0.0166)	658					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1974C>G	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.730|9.730	1.161947|1.161947	0.21538|0.21538	6.81E-4|6.81E-4	0.0|0.0	ENSG00000071205|ENSG00000071205	ENST00000336498;ENST00000414545|ENST00000507661	T;T|.	0.10099|.	3.22;2.91|.	5.77|5.77	-0.00532|-0.00532	0.14018|0.14018	.|.	0.403473|.	0.28476|.	N|.	0.015214|.	T|T	0.26231|0.26231	0.0640|0.0640	N|N	0.14661|0.14661	0.345|0.345	0.30792|0.30792	N|N	0.740761|0.740761	B;B;B;B|.	0.21606|.	0.058;0.004;0.001;0.001|.	B;B;B;B|.	0.17098|.	0.017;0.005;0.001;0.001|.	T|T	0.34775|0.34775	-0.9815|-0.9815	10|5	0.24483|.	T|.	0.36|.	.|.	10.4038|10.4038	0.44246|0.44246	0.2293:0.3577:0.4129:0.0|0.2293:0.3577:0.4129:0.0	.|.	91;239;307;658|.	Q9H7G7;Q86T21;E7EUW5;A1A4S6|.	.;.;.;RHG10_HUMAN|.	E|E	658;307|336	ENSP00000336923:D658E;ENSP00000406624:D307E|.	ENSP00000336923:D658E|.	D|Q	+|+	3|1	2|0	ARHGAP10|ARHGAP10	149187599|149187599	0.064000|0.064000	0.20934|0.20934	0.767000|0.767000	0.31495|0.31495	0.951000|0.951000	0.60555|0.60555	-0.074000|-0.074000	0.11450|0.11450	0.033000|0.033000	0.15463|0.15463	0.655000|0.655000	0.94253|0.94253	GAC|CAA		PASS	0.567	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		4	75	4	75	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159526275	159526275	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr4:159526275C>G	ENST00000307765.5	+	5	699	c.448C>G	c.(448-450)Cat>Gat	p.H150D	RXFP1_ENST00000460056.2_Missense_Mutation_p.H69D|RXFP1_ENST00000423548.1_Missense_Mutation_p.H150D|RXFP1_ENST00000343542.5_Missense_Mutation_p.H150D|RXFP1_ENST00000470033.1_Missense_Mutation_p.H117D|RXFP1_ENST00000448688.2_Missense_Mutation_p.H69D	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	150					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.H150D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAAGAATTATCATGATCTTCA	0.318																																						uc003ipz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)CAT>GAT		relaxin/insulin-like family peptide receptor 1							44.0	43.0	43.0					4																	159526275		1817	4066	5883	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159526275C>G	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.448C>G	4.37:g.159526275C>G	ENSP00000303248:p.His150Asp					RXFP1_uc010iqj.1_Translation_Start_Site|RXFP1_uc011cja.1_Missense_Mutation_p.H69D|RXFP1_uc010iqo.2_Missense_Mutation_p.H150D|RXFP1_uc011cjb.1_Missense_Mutation_p.H96D|RXFP1_uc010iqk.2_Translation_Start_Site|RXFP1_uc011cjc.1_Missense_Mutation_p.H69D|RXFP1_uc011cjd.1_Missense_Mutation_p.H69D|RXFP1_uc010iql.2_Translation_Start_Site|RXFP1_uc011cje.1_Missense_Mutation_p.H177D|RXFP1_uc010iqm.2_Missense_Mutation_p.H117D|RXFP1_uc011cjf.1_Missense_Mutation_p.H20D|RXFP1_uc010iqn.2_Missense_Mutation_p.H96D	p.H150D	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	5	530	+	all_hematologic(180;0.24)	Renal(120;0.0854)	150			Extracellular (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.448C>G	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497497	0.26861	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000423548;ENST00000448688;ENST00000343542;ENST00000470033	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45	5.75	4.86	0.63082	.	0.213903	0.49916	D	0.000121	T	0.40979	0.1139	N	0.17922	0.545	0.33487	D	0.588193	B;B;B;B;B;B	0.26147	0.089;0.089;0.037;0.143;0.03;0.089	B;B;B;B;B;B	0.35770	0.102;0.21;0.102;0.062;0.062;0.102	T	0.43327	-0.9398	10	0.12103	T	0.63	.	15.2086	0.73198	0.0:0.8586:0.1414:0.0	.	161;177;69;150;117;150	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;Q9HBX9	.;.;.;.;.;RXFP1_HUMAN	D	69;150;150;69;150;117	ENSP00000423306:H69D;ENSP00000303248:H150D;ENSP00000405841:H150D;ENSP00000414885:H69D;ENSP00000345889:H150D;ENSP00000420712:H117D	ENSP00000303248:H150D	H	+	1	0	RXFP1	159745725	0.997000	0.39634	1.000000	0.80357	0.466000	0.32739	2.265000	0.43311	2.720000	0.93068	0.557000	0.71058	CAT		PASS	0.318	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		9	28	9	28	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	484769	484769	+	Silent	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:484769C>A	ENST00000264938.3	-	5	807	c.798G>T	c.(796-798)gtG>gtT	p.V266V	SLC9A3_ENST00000514375.1_Silent_p.V266V	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	266					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.V266V(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGCGAAGACCACCCCCACCA	0.632																																						uc003jbe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)GTG>GTT		solute carrier family 9 (sodium/hydrogen							143.0	114.0	124.0					5																	484769		2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:484769C>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.798G>T	5.37:g.484769C>A						SLC9A3_uc011clx.1_Silent_p.V266V	p.V266V	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	910	-			266			Helical; Name=H/M6; (Potential).		B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.798G>T	CCDS3855.1																																																																																				PASS	0.632	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		45	37	45	37	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13867922	13867922	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:13867922G>A	ENST00000265104.4	-	25	4118	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1338	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F1338F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCTTGGAGGAATACCTCCA	0.453									Kartagener syndrome																													uc003jfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4012-4014)TTC>TTT		dynein, axonemal, heavy chain 5							131.0	128.0	129.0					5																	13867922		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13867922G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4014C>T	5.37:g.13867922G>A							p.F1338F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			25	4056	-	Lung NSC(4;0.00476)		1338			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.4014C>T	CCDS3882.1																																																																																				PASS	0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		35	147	35	147	---	---	---	---
ZNF622	90441	broad.mit.edu	37	5	16453235	16453235	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:16453235C>A	ENST00000308683.2	-	5	1319	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	398					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R398I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTTGTAGTATCTCATCAAGGA	0.478																																						uc003jfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1192-1194)AGA>ATA		zinc finger protein 622							99.0	98.0	99.0					5																	16453235		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16453235C>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1193G>T	5.37:g.16453235C>A	ENSP00000310042:p.Arg398Ile						p.R398I	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			5	1313	-			398						Missense_Mutation	SNP	ENST00000308683.2	37	c.1193G>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545367	0.96488	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	5.7	0.88788	.	0.091658	0.64402	D	0.000001	T	0.81322	0.4798	M	0.93550	3.43	0.80722	D	1	D	0.54397	0.966	P	0.48030	0.564	D	0.86539	0.1827	9	0.72032	D	0.01	-2.4542	19.8218	0.96599	0.0:1.0:0.0:0.0	.	398	Q969S3	ZN622_HUMAN	I	398	.	ENSP00000310042:R398I	R	-	2	0	ZNF622	16506235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.572000	0.67411	2.678000	0.91216	0.655000	0.94253	AGA		PASS	0.478	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		78	69	78	69	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33549326	33549326	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:33549326C>T	ENST00000504830.1	-	21	4623	c.4288G>A	c.(4288-4290)Gag>Aag	p.E1430K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1345K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1430	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1430K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCAAGGCTCCACCTGCCAC	0.572										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4288-4290)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							51.0	48.0	49.0					5																	33549326		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549326C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4288G>A	5.37:g.33549326C>T	ENSP00000422554:p.Glu1430Lys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1345K	p.E1430K	NM_030955	NP_112217	P58397	ATS12_HUMAN			21	4451	-			1430			TSP type-1 7.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4288G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609524	0.66558	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60797	0.16;0.16	5.37	5.37	0.77165	.	0.193868	0.45867	D	0.000338	T	0.58192	0.2105	M	0.62154	1.92	0.80722	D	1	P;P	0.41313	0.745;0.643	B;P	0.44732	0.352;0.459	T	0.54761	-0.8245	10	0.08381	T	0.77	.	16.012	0.80409	0.0:1.0:0.0:0.0	.	1345;1430	P58397-3;P58397	.;ATS12_HUMAN	K	1430;1345	ENSP00000422554:E1430K;ENSP00000344847:E1345K	ENSP00000344847:E1345K	E	-	1	0	ADAMTS12	33585083	0.047000	0.20315	1.000000	0.80357	0.762000	0.43233	2.007000	0.40883	2.508000	0.84585	0.650000	0.86243	GAG		PASS	0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		11	114	11	114	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90015976	90015976	+	Silent	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:90015976C>T	ENST00000405460.2	+	44	9655	c.9559C>T	c.(9559-9561)Ctg>Ttg	p.L3187L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3187					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L3187L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTCAAACCCTGATAACAGT	0.398																																						uc003kju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(9559-9561)CTG>TTG		G protein-coupled receptor 98 precursor							91.0	87.0	88.0					5																	90015976		1820	4064	5884	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90015976C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9559C>T	5.37:g.90015976C>T						GPR98_uc003kjt.2_Silent_p.L893L|GPR98_uc003kjv.2_Silent_p.L787L	p.L3187L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	44	9655	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3187			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.9559C>T	CCDS47246.1																																																																																				PASS	0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		85	30	85	30	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101816003	101816003	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:101816003T>C	ENST00000506729.1	-	2	665	c.494A>G	c.(493-495)tAt>tGt	p.Y165C	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.Y165C|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.Y165C|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.Y165C|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.Y165C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y165C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCTGTCTCCATAGAATGCTAT	0.328																																						uc003knn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(493-495)TAT>TGT		solute carrier organic anion transporter family,							118.0	122.0	120.0					5																	101816003		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101816003T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.494A>G	5.37:g.101816003T>C	ENSP00000421339:p.Tyr165Cys					SLCO6A1_uc003kno.2_Missense_Mutation_p.Y165C|SLCO6A1_uc003knp.2_Missense_Mutation_p.Y165C|SLCO6A1_uc003knq.2_Missense_Mutation_p.Y165C	p.Y165C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	666	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	165			Helical; Name=2; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.494A>G	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400754	0.25291	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.56	0.688	0.18027	Major facilitator superfamily domain, general substrate transporter (1);	0.283123	0.30244	N	0.010067	T	0.62295	0.2416	M	0.83012	2.62	0.21579	N	0.999636	D;P;D	0.89917	1.0;0.613;1.0	D;P;D	0.85130	0.996;0.458;0.997	T	0.52786	-0.8529	10	0.87932	D	0	.	2.8827	0.05652	0.1848:0.2055:0.0:0.6097	.	165;165;165	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	C	165	ENSP00000421339:Y165C;ENSP00000369135:Y165C;ENSP00000373671:Y165C;ENSP00000421990:Y165C;ENSP00000369138:Y165C	ENSP00000369135:Y165C	Y	-	2	0	SLCO6A1	101843902	0.993000	0.37304	0.459000	0.27081	0.103000	0.19146	0.368000	0.20399	0.033000	0.15463	0.533000	0.62120	TAT		PASS	0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		72	50	72	50	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139217217	139217217	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:139217217A>G	ENST00000274710.3	+	12	1878	c.1673A>G	c.(1672-1674)tAc>tGc	p.Y558C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	558	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.Y558C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATGAGTACAGGCCTGAC	0.602																																						uc003leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1672-1674)TAC>TGC		pleckstrin and Sec7 domain containing 2							97.0	81.0	87.0					5																	139217217		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139217217A>G	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1673A>G	5.37:g.139217217A>G	ENSP00000274710:p.Tyr558Cys						p.Y558C	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1878	+			558			PH.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1673A>G	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094887	0.76870	.	.	ENSG00000146005	ENST00000274710	T	0.13307	2.6	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07443	-1.0772	10	0.52906	T	0.07	.	14.9842	0.71332	1.0:0.0:0.0:0.0	.	558	Q9BQI7	PSD2_HUMAN	C	558	ENSP00000274710:Y558C	ENSP00000274710:Y558C	Y	+	2	0	PSD2	139197401	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.291000	0.96070	1.947000	0.56498	0.391000	0.25812	TAC		PASS	0.602	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		19	55	19	55	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590009	140590009	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:140590009C>G	ENST00000239450.2	+	1	1719	c.1530C>G	c.(1528-1530)aaC>aaG	p.N510K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N173K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N510K(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCGGACAACGGCCACCTGT	0.677																																						uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1528-1530)AAC>AAG		protocadherin beta 12 precursor							84.0	86.0	86.0					5																	140590009		2203	4297	6500	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590009C>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1530C>G	5.37:g.140590009C>G	ENSP00000239450:p.Asn510Lys					PCDHB12_uc011dak.1_Missense_Mutation_p.N173K	p.N510K	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1719	+			510			Extracellular (Potential).|Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1530C>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.283196	0.23392	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01705	4.68;4.68	3.41	0.426	0.16479	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.08044	0.0201	M	0.80616	2.505	0.28914	N	0.892559	D	0.65815	0.995	D	0.66497	0.944	T	0.04840	-1.0923	9	0.87932	D	0	.	8.1564	0.31171	0.0:0.5161:0.0:0.4839	.	510	Q9Y5F1	PCDBC_HUMAN	K	173;510;130	ENSP00000440199:N173K;ENSP00000239450:N510K	ENSP00000239450:N510K	N	+	3	2	PCDHB12	140570193	0.000000	0.05858	0.292000	0.24919	0.120000	0.20174	-3.083000	0.00612	0.115000	0.18071	0.485000	0.47835	AAC		PASS	0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		28	85	28	85	---	---	---	---
CCDC69	26112	broad.mit.edu	37	5	150563006	150563006	+	Missense_Mutation	SNP	C	C	G	rs574161078		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:150563006C>G	ENST00000355417.2	-	9	1057	c.883G>C	c.(883-885)Gcc>Ccc	p.A295P	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	295								p.A295P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTATGTGGCGAGGAAAGAG	0.602																																						uc003ltq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(883-885)GCC>CCC		coiled-coil domain containing 69							37.0	37.0	37.0					5																	150563006		2203	4299	6502	SO:0001583	missense	26112							g.chr5:150563006C>G		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.883G>C	5.37:g.150563006C>G	ENSP00000347586:p.Ala295Pro					CCDC69_uc010jhu.2_Missense_Mutation_p.A148P|CCDC69_uc011dcq.1_RNA	p.A295P	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1006	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	295					A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	c.883G>C	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.683915	0.47991	.	.	ENSG00000198624	ENST00000355417	T	0.33654	1.4	5.39	2.42	0.29668	.	0.000000	0.51477	D	0.000091	T	0.21718	0.0523	N	0.19112	0.55	0.27410	N	0.954604	B	0.28783	0.222	B	0.29353	0.101	T	0.14062	-1.0486	10	0.48119	T	0.1	-17.3051	8.1276	0.31008	0.0:0.6153:0.3017:0.083	.	295	A6NI79	CCD69_HUMAN	P	295	ENSP00000347586:A295P	ENSP00000347586:A295P	A	-	1	0	CCDC69	150543199	0.707000	0.27866	0.125000	0.21846	0.985000	0.73830	1.169000	0.31871	0.744000	0.32741	0.561000	0.74099	GCC		PASS	0.602	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		3	11	3	11	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156184629	156184629	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:156184629C>A	ENST00000435422.3	+	7	1097	c.610C>A	c.(610-612)Cca>Aca	p.P204T	SGCD_ENST00000447401.1_Missense_Mutation_p.P205T|SGCD_ENST00000337851.4_Missense_Mutation_p.P205T|SGCD_ENST00000517913.1_Missense_Mutation_p.P205T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	204					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.P205T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGAGGCCCCAAAAGGAGT	0.458																																						uc003lwd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(610-612)CCA>ACA		delta-sarcoglycan isoform 3							52.0	52.0	52.0					5																	156184629		1863	4114	5977	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156184629C>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.610C>A	5.37:g.156184629C>A	ENSP00000403003:p.Pro204Thr					SGCD_uc003lwb.2_Missense_Mutation_p.P205T|SGCD_uc003lwc.3_Missense_Mutation_p.P205T	p.P204T	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1086	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	204			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.610C>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849448	0.91277	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.95884	0.8660	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.93510	0.6852	10	0.15952	T	0.53	0.0031	19.5376	0.95260	0.0:1.0:0.0:0.0	.	204;205;205	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	T	205;204;205;205	ENSP00000429378:P205T;ENSP00000403003:P204T;ENSP00000338343:P205T;ENSP00000408324:P205T	ENSP00000338343:P205T	P	+	1	0	SGCD	156117207	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.380000	0.79704	2.620000	0.88729	0.655000	0.94253	CCA		PASS	0.458	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			4	14	4	14	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054387	29054387	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr6:29054387C>A	ENST00000377173.2	-	1	703	c.639G>T	c.(637-639)ttG>ttT	p.L213F		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213F(1)|p.L213L(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGATGAGGATCAATGTCACTG	0.438																																						uc003nlx.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(1)	1						c.(637-639)TTG>TTT		olfactory receptor, family 2, subfamily B,							100.0	90.0	94.0					6																	29054387		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054387C>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.639G>T	6.37:g.29054387C>A	ENSP00000366378:p.Leu213Phe						p.L213F	NM_001005226	NP_001005226					1	704	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.639G>T	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413967	0.25465	.	.	ENSG00000204703	ENST00000377173	T	0.42131	0.98	3.82	0.623	0.17654	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31450	U	0.007627	T	0.15349	0.0370	L	0.49455	1.56	0.23816	N	0.996769	B	0.21309	0.054	B	0.31547	0.132	T	0.26744	-1.0094	10	0.46703	T	0.11	.	2.9696	0.05918	0.1397:0.3362:0.4104:0.1136	.	213	O76000	OR2B3_HUMAN	F	213	ENSP00000366378:L213F	ENSP00000366378:L213F	L	-	3	2	OR2B3	29162366	0.000000	0.05858	0.494000	0.27515	0.942000	0.58702	-2.041000	0.01415	0.102000	0.17638	0.523000	0.50628	TTG		PASS	0.438	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			40	35	40	35	---	---	---	---
LTA	4049	broad.mit.edu	37	6	31541077	31541077	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr6:31541077C>G	ENST00000454783.1	+	4	483	c.225C>G	c.(223-225)aaC>aaG	p.N75K	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.N75K	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	75					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.N75K(1)		endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GCAAGCAGAACTCACTGCTCT	0.567																																						uc011dnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)AAC>AAG		lymphotoxin alpha precursor	Etanercept(DB00005)						66.0	58.0	61.0					6																	31541077		2203	4300	6503	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31541077C>G	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.225C>G	6.37:g.31541077C>G	ENSP00000403495:p.Asn75Lys					LTA_uc003nue.1_Missense_Mutation_p.N75K|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.N22K|LTA_uc003nug.2_Missense_Mutation_p.N22K|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	p.N75K	NM_001159740	NP_001153212	P01374	TNFB_HUMAN			4	438	+			75					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.225C>G	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	C	4.065	0.009781	0.07912	.	.	ENSG00000226979	ENST00000454783;ENST00000418386;ENST00000436827	T;T	0.63580	-0.05;-0.05	5.16	1.06	0.20224	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.774326	0.12513	N	0.462333	T	0.26846	0.0657	L	0.43152	1.355	0.09310	N	1	B;B;B	0.17268	0.001;0.021;0.0	B;B;B	0.12837	0.001;0.008;0.0	T	0.18999	-1.0319	10	0.41790	T	0.15	-12.9486	3.3854	0.07269	0.1803:0.5215:0.0:0.2982	.	75;75;75	E7ET53;F8WB56;P01374	.;.;TNFB_HUMAN	K	75	ENSP00000403495:N75K;ENSP00000413450:N75K	ENSP00000413450:N75K	N	+	3	2	LTA	31649056	0.000000	0.05858	0.003000	0.11579	0.481000	0.33189	-1.609000	0.02066	0.320000	0.23234	-0.152000	0.13540	AAC		PASS	0.567	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			8	39	8	39	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42832465	42832465	+	Missense_Mutation	SNP	C	C	T	rs372362992		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr6:42832465C>T	ENST00000314073.5	+	13	2697	c.2521C>T	c.(2521-2523)Cgg>Tgg	p.R841W	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R841W			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	841								p.R841W(1)									ACAGTTTGGCCGGAGTGACCA	0.502																																						uc003osn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2521-2523)CGG>TGG		hypothetical protein LOC23506		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	111.0	116.0		2521	-2.0	0.7	6		116	0,8600		0,0,4300	no	missense	KIAA0240	NM_015349.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	841/1080	42832465	1,13005	2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832465C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2521C>T	6.37:g.42832465C>T	ENSP00000313933:p.Arg841Trp					KIAA0240_uc011duw.1_Missense_Mutation_p.R841W|KIAA0240_uc003osp.1_Missense_Mutation_p.R841W	p.R841W	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		13	2672	+	Colorectal(47;0.196)		841					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2521C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934839	0.34189	2.27E-4	0.0	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.47869	0.83;0.83	5.24	-2.03	0.07365	.	0.182827	0.40818	N	0.001005	T	0.13798	0.0334	L	0.27053	0.805	0.24819	N	0.992598	B	0.11235	0.004	B	0.06405	0.002	T	0.29671	-1.0004	10	0.87932	D	0	-8.9793	10.1499	0.42786	0.2785:0.596:0.1254:0.0	.	841	Q6AI39	K0240_HUMAN	W	841	ENSP00000313933:R841W;ENSP00000377723:R841W	ENSP00000313933:R841W	R	+	1	2	KIAA0240	42940443	0.993000	0.37304	0.703000	0.30354	0.886000	0.51366	0.254000	0.18314	-0.526000	0.06383	-0.262000	0.10625	CGG		PASS	0.502	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		32	138	32	138	---	---	---	---
SLC29A1	2030	broad.mit.edu	37	6	44197764	44197764	+	Silent	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr6:44197764C>A	ENST00000393841.1	+	6	926	c.435C>A	c.(433-435)atC>atA	p.I145I	SLC29A1_ENST00000371708.1_Silent_p.I145I|SLC29A1_ENST00000371731.1_Silent_p.I145I|SLC29A1_ENST00000427851.2_Silent_p.I145I|SLC29A1_ENST00000371724.1_Silent_p.I145I|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000313248.7_Silent_p.I224I|SLC29A1_ENST00000393844.1_Silent_p.I145I|SLC29A1_ENST00000371755.3_Silent_p.I145I|SLC29A1_ENST00000371713.1_Silent_p.I145I|SLC29A1_ENST00000371740.5_Silent_p.I145I	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	145					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.I145I(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TCACCATGATCAAGATCGTGC	0.557																																						uc003owu.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(433-435)ATC>ATA		equilibrative nucleoside transporter 1	Troglitazone(DB00197)						70.0	61.0	64.0					6																	44197764		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197764C>A	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.435C>A	6.37:g.44197764C>A						SLC29A1_uc011dvp.1_Silent_p.I164I|SLC29A1_uc003owv.1_Silent_p.I145I|SLC29A1_uc003oww.1_Silent_p.I224I|SLC29A1_uc011dvq.1_Silent_p.I187I|SLC29A1_uc003owx.1_Silent_p.I145I|SLC29A1_uc003owy.1_Silent_p.I145I|SLC29A1_uc003owz.1_Silent_p.I145I	p.I145I	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	764	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		145			Helical; (Potential).		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.435C>A	CCDS4908.1																																																																																				PASS	0.557	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			39	46	39	46	---	---	---	---
PREP	5550	broad.mit.edu	37	6	105821374	105821374	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr6:105821374G>A	ENST00000369110.3	-	5	657	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	155					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.F155F(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CAACTTTCATGAACTTGATTG	0.468																																						uc003prc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(463-465)TTC>TTT		prolyl endopeptidase	Oxytocin(DB00107)						140.0	121.0	128.0					6																	105821374		2203	4300	6503	SO:0001819	synonymous_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105821374G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.465C>T	6.37:g.105821374G>A							p.F155F	NM_002726	NP_002717	P48147	PPCE_HUMAN			5	668	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	155					Q8N6D4	Silent	SNP	ENST00000369110.3	37	c.465C>T	CCDS5053.1																																																																																				PASS	0.468	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			31	38	31	38	---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110746145	110746145	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr6:110746145G>A	ENST00000368919.3	-	8	1731	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	SLC22A16_ENST00000330550.4_Silent_p.L521L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	555					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.L555L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TATTAGTTGTGAGAAGTAATT	0.458																																						uc003puf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1663-1665)CTC>CTT		solute carrier family 22, member 16							158.0	148.0	152.0					6																	110746145		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746145G>A		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1665C>T	6.37:g.110746145G>A						SLC22A16_uc003pue.2_Silent_p.L536L	p.L555L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	8	1732	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	555					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.1665C>T	CCDS5084.1																																																																																				PASS	0.458	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		77	61	77	61	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132891506	132891506	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr6:132891506G>A	ENST00000275198.1	+	1	46	c.46G>A	c.(46-48)Gcg>Acg	p.A16T		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	16					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.A16T(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCTGTGCTACGCGAACGTGAA	0.483																																						uc011eck.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(46-48)GCG>ACG		trace amine associated receptor 6							114.0	107.0	109.0					6																	132891506		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891506G>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.46G>A	6.37:g.132891506G>A	ENSP00000275198:p.Ala16Thr						p.A16T	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	46	+	Breast(56;0.112)		16			Extracellular (Potential).		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.46G>A	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	g	12.11	1.838550	0.32513	.	.	ENSG00000146383	ENST00000275198	T	0.62105	0.05	4.87	2.03	0.26663	.	0.980712	0.08270	U	0.971673	T	0.29028	0.0721	L	0.27053	0.805	0.09310	N	1	B	0.17038	0.02	B	0.19666	0.026	T	0.36261	-0.9755	10	0.42905	T	0.14	-1.2393	10.3417	0.43882	0.0709:0.3862:0.5429:0.0	.	16	Q96RI8	TAAR6_HUMAN	T	16	ENSP00000275198:A16T	ENSP00000275198:A16T	A	+	1	0	TAAR6	132933199	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	1.384000	0.34396	0.224000	0.20940	-0.215000	0.12644	GCG		PASS	0.483	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		14	68	14	68	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160450647	160450647	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr6:160450647C>T	ENST00000356956.1	+	7	990	c.842C>T	c.(841-843)gCg>gTg	p.A281V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	281					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.A281V(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CACAGCCCTGCGGTGACTATT	0.512																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(841-843)GCG>GTG		insulin-like growth factor 2 receptor precursor							124.0	103.0	110.0					6																	160450647		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160450647C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.842C>T	6.37:g.160450647C>T	ENSP00000349437:p.Ala281Val						p.A281V	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	7	990	+		Breast(66;0.000777)|Ovarian(120;0.0305)	281			2.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.842C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637195	0.67130	.	.	ENSG00000197081	ENST00000356956	T	0.13778	2.56	4.91	4.91	0.64330	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.85630	2.765	0.51767	D	0.999937	D	0.89917	1.0	D	0.87578	0.998	T	0.34304	-0.9834	10	0.66056	D	0.02	-30.9266	17.4451	0.87575	0.0:1.0:0.0:0.0	.	281	P11717	MPRI_HUMAN	V	281	ENSP00000349437:A281V	ENSP00000349437:A281V	A	+	2	0	IGF2R	160370637	1.000000	0.71417	0.034000	0.17996	0.159000	0.22180	5.926000	0.70070	2.433000	0.82419	0.655000	0.94253	GCG		PASS	0.512	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		15	25	15	25	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43436457	43436457	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr7:43436457A>G	ENST00000395891.2	+	7	1205	c.600A>G	c.(598-600)ggA>ggG	p.G200G	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.G200G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	200	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G179G(1)|p.G200G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAGGACAAGGAAGTCGGAGGC	0.418																																						uc003tid.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(598-600)GGA>GGG		NEDD4-like ubiquitin-protein ligase 1							183.0	175.0	177.0					7																	43436457		1890	4112	6002	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43436457A>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.600A>G	7.37:g.43436457A>G						HECW1_uc011kbi.1_Silent_p.G200G|HECW1_uc003tie.1_Silent_p.G232G	p.G200G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			7	1205	+			200			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.600A>G	CCDS5469.2																																																																																				PASS	0.418	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		41	61	41	61	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72891722	72891723	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr7:72891722_72891723TC>AA	ENST00000339594.4	-	7	2406_2407	c.2068_2069GA>TT	c.(2068-2070)GAg>TTg	p.E690L	BAZ1B_ENST00000404251.1_Missense_Mutation_p.E690L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	690					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.E690V(1)|p.E690L(1)|p.E690*(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCGCACCAGCTCTGAAACAGAA	0.475																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(2068-2070)GAG>GTG|c.(2068-2070)GAG>TAG		bromodomain adjacent to zinc finger domain, 1B																																				SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891722T>A|g.chr7:72891723C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2068_2069delinsAA	7.37:g.72891722_72891723delinsAA	ENSP00000342434:p.Glu690Leu						p.E690V|p.E690*	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			7	2414|2413	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	690					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000339594.4	37	c.2069A>T|c.2068G>T	CCDS5549.1																																																																																				PASS	0.475	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		62|63	67|70	62	67	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98608731	98608731	+	Silent	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr7:98608731C>G	ENST00000359863.4	+	70	11162	c.10953C>G	c.(10951-10953)ctC>ctG	p.L3651L	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Silent_p.L3640L|TRRAP_ENST00000355540.3_Silent_p.L3622L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3651	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.L3651L(1)|p.L3622L(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGCATGCTCAAGGAGTGGG	0.572																																						uc003upp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(10951-10953)CTC>CTG		transformation/transcription domain-associated							81.0	75.0	77.0					7																	98608731		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98608731C>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10953C>G	7.37:g.98608731C>G						TRRAP_uc011kis.1_Silent_p.L3622L|TRRAP_uc003upr.2_Silent_p.L3357L|TRRAP_uc003ups.2_5'Flank	p.L3651L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		70	11162	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3651			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.10953C>G	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663996	0.14710	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.128	0.31010	0.1148:0.0757:0.4958:0.3137	.	.	.	.	X	3380	.	.	S	+	2	0	TRRAP	98446667	0.000000	0.05858	0.073000	0.20177	0.952000	0.60782	-3.303000	0.00519	-2.826000	0.00341	-1.147000	0.01851	TCA		PASS	0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		18	53	18	53	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99917242	99917242	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr7:99917242C>G	ENST00000332397.6	+	9	1585	c.1401C>G	c.(1399-1401)ttC>ttG	p.F467L	SPDYE3_ENST00000437326.2_Missense_Mutation_p.F90L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	467								p.F467L(2)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						AAAAGATCTTCTACTTCCTGT	0.552																																						uc003uug.1																			2	Substitution - Missense(2)		lung(2)		0						c.(268-270)TTC>TTG		speedy homolog E3							102.0	108.0	106.0					7																	99917242		2203	4300	6503	SO:0001583	missense	441272							g.chr7:99917242C>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1401C>G	7.37:g.99917242C>G	ENSP00000329565:p.Phe467Leu					uc011kjm.1_5'Flank	p.F90L	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN			4	510	+			467					Q495Y9|Q6PHC4	Missense_Mutation	SNP	ENST00000332397.6	37	c.270C>G	CCDS47658.2	.	.	.	.	.	.	.	.	.	.	C	5.690	0.311816	0.10789	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.185	-0.371	0.12525	.	0.440541	0.20356	N	0.093951	T	0.42966	0.1226	M	0.69823	2.125	0.09310	N	1	.	.	.	.	.	.	T	0.41840	-0.9486	6	0.59425	D	0.04	.	.	.	.	.	.	.	.	L	467;90	.	ENSP00000329565:F467L	F	+	3	2	SPDYE3	99755178	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	-1.130000	0.03241	-0.740000	0.04803	-0.736000	0.03550	TTC		PASS	0.552	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		32	112	32	112	---	---	---	---
LRRC17	10234	broad.mit.edu	37	7	102574465	102574465	+	Silent	SNP	G	G	C	rs377630961		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr7:102574465G>C	ENST00000339431.4	+	2	400	c.105G>C	c.(103-105)gcG>gcC	p.A35A	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000249377.4_Silent_p.A35A|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000313221.4_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	35					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.A35A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATGGCCGGGCGGGTGGAGGCC	0.552																																						uc003vau.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(103-105)GCG>GCC		leucine rich repeat containing 17 isoform 1							42.0	42.0	42.0					7																	102574465		2203	4300	6503	SO:0001819	synonymous_variant	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574465G>C	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.105G>C	7.37:g.102574465G>C						FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Silent_p.A35A	p.A35A	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN			2	494	+			35					Q13288|Q6UWA7|Q75MG5	Silent	SNP	ENST00000339431.4	37	c.105G>C	CCDS34721.1																																																																																				PASS	0.552	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		14	41	14	41	---	---	---	---
MKLN1	4289	broad.mit.edu	37	7	131099445	131099445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr7:131099445C>T	ENST00000352689.6	+	8	863	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	MKLN1_ENST00000421797.2_Nonsense_Mutation_p.Q183*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	275					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.Q275*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AGGAGGCCATCAGATGGTTAT	0.418																																						uc011kpm.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(823-825)CAG>TAG		muskelin 1, intracellular mediator containing							91.0	85.0	87.0					7																	131099445		2203	4300	6503	SO:0001587	stop_gained	4289				signal transduction	cytoplasm	protein binding	g.chr7:131099445C>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.823C>T	7.37:g.131099445C>T	ENSP00000323527:p.Gln275*					MKLN1_uc011kpl.1_Nonsense_Mutation_p.Q252*|MKLN1_uc010lmh.2_Nonsense_Mutation_p.Q275*|MKLN1_uc003vqs.2_Nonsense_Mutation_p.Q68*	p.Q275*	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN			8	887	+	Melanoma(18;0.162)		275					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	ENST00000352689.6	37	c.823C>T	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945738	0.73672	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	.	.	.	5.16	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-9.5301	12.412	0.55471	0.1685:0.8314:0.0:0.0	.	.	.	.	X	183;275	.	ENSP00000323527:Q275X	Q	+	1	0	MKLN1	130749985	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.025000	0.70864	1.271000	0.44313	-0.182000	0.12963	CAG		PASS	0.418	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		9	15	9	15	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138546088	138546088	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr7:138546088C>T	ENST00000422774.1	-	16	5092	c.5044G>A	c.(5044-5046)Gag>Aag	p.E1682K	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E1632K|KIAA1549_ENST00000440172.1_Missense_Mutation_p.E1682K			Q9HCM3	K1549_HUMAN	KIAA1549	1682						integral component of membrane (GO:0016021)		p.E1682K(1)|p.E1632K(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGCGTGCCTCCTCGATGGAC	0.682			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(5044-5046)GAG>AAG		hypothetical protein LOC57670 isoform 1							39.0	48.0	45.0					7																	138546088		2108	4198	6306	SO:0001583	missense	57670					integral to membrane		g.chr7:138546088C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5044G>A	7.37:g.138546088C>T	ENSP00000416040:p.Glu1682Lys					KIAA1549_uc011kqi.1_Missense_Mutation_p.E466K|KIAA1549_uc003vuk.3_Missense_Mutation_p.E1632K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E1682K|KIAA1549_uc011kqk.1_Missense_Mutation_p.E466K	p.E1682K	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			16	5093	-			1682					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5044G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431498	0.96150	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.36878	1.26;1.26;1.23	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;D	0.91635	0.999;0.994;0.998;0.994	T	0.66035	-0.6023	10	0.72032	D	0.01	.	16.7089	0.85380	0.0:1.0:0.0:0.0	.	1682;466;1682;466	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	K	1682;1632;1682	ENSP00000406661:E1682K;ENSP00000242365:E1632K;ENSP00000416040:E1682K	ENSP00000242365:E1632K	E	-	1	0	KIAA1549	138196628	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.459000	0.66685	2.484000	0.83849	0.563000	0.77884	GAG		PASS	0.682	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			36	64	36	64	---	---	---	---
PDIA4	9601	broad.mit.edu	37	7	148716172	148716172	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr7:148716172G>A	ENST00000286091.4	-	3	619	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	129	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.A129A(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CAAACCTGCTGGCCAGCACAG	0.498																																						uc003wff.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(1)	6						c.(385-387)GCC>GCT		protein disulfide isomerase A4 precursor							101.0	91.0	94.0					7																	148716172		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148716172G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.387C>T	7.37:g.148716172G>A							p.A129A	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		3	669	-	Melanoma(164;0.15)		129			Thioredoxin 1.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.387C>T	CCDS5893.1																																																																																				PASS	0.498	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		38	26	38	26	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3263552	3263552	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr8:3263552C>T	ENST00000520002.1	-	16	2821	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	CSMD1_ENST00000539096.1_Missense_Mutation_p.E755K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E755K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E756K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E755K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E756K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E756K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	756	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E755K(1)|p.E484K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTGCACCTTCACAGCGGGGC	0.547																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2266-2268)GAA>AAA		CUB and Sushi multiple domains 1 precursor							46.0	48.0	48.0					8																	3263552		2002	4175	6177	SO:0001583	missense	64478					integral to membrane		g.chr8:3263552C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2266G>A	8.37:g.3263552C>T	ENSP00000430733:p.Glu756Lys					CSMD1_uc011kwj.1_Missense_Mutation_p.E148K	p.E756K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	15	2656	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	756			Sushi 4.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2266G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.202909	0.94997	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (1);	0.064521	0.64402	D	0.000012	T	0.42359	0.1199	L	0.39692	1.235	0.80722	D	1	D;D	0.76494	0.983;0.999	D;D	0.79108	0.956;0.992	T	0.06899	-1.0801	10	0.19147	T	0.46	.	19.0906	0.93225	0.0:1.0:0.0:0.0	.	756;756	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	K	756;756;618;755;755;755	ENSP00000383047:E756K;ENSP00000430733:E756K;ENSP00000441462:E755K;ENSP00000446243:E755K;ENSP00000441675:E755K	ENSP00000320445:E618K	E	-	1	0	CSMD1	3250959	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.287000	0.78681	2.486000	0.83907	0.591000	0.81541	GAA		PASS	0.547	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		19	21	19	21	---	---	---	---
ZDHHC2	51201	broad.mit.edu	37	8	17053099	17053099	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr8:17053099G>A	ENST00000262096.8	+	4	1034	c.339G>A	c.(337-339)aaG>aaA	p.K113K		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	113					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K113K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GAGCAGCCAAGGATCTTCCCA	0.423																																						uc003wxe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(337-339)AAG>AAA		zinc finger, DHHC-type containing 2							99.0	99.0	99.0					8																	17053099		1896	4117	6013	SO:0001819	synonymous_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17053099G>A	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.339G>A	8.37:g.17053099G>A							p.K113K	NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	4	736	+			113					D3DSP5	Silent	SNP	ENST00000262096.8	37	c.339G>A	CCDS47810.1																																																																																				PASS	0.423	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		6	58	6	58	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30916059	30916059	+	Splice_Site	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr8:30916059G>T	ENST00000298139.5	+	2	345	c.96G>T	c.(94-96)aaG>aaT	p.K32N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	32	Interaction with WRNIP1. {ECO:0000250}.		K -> R (in dbSNP:rs34477820). {ECO:0000269|PubMed:11161804}.		aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.K32N(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGAAAGAAAGGTATGTTGTT	0.338			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(94-96)AAG>AAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							119.0	118.0	118.0					8																	30916059		2203	4300	6503	SO:0001630	splice_region_variant	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30916059G>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.96+1G>T	8.37:g.30916059G>T							p.K32N	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	2	884	+		Breast(100;0.195)	32			Interaction with WRNIP1 (By similarity).		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.96G>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320974	0.60634	.	.	ENSG00000165392	ENST00000298139	T	0.55052	0.54	4.87	3.98	0.46160	.	0.299988	0.26616	N	0.023392	T	0.52996	0.1769	M	0.64997	1.995	0.80722	D	1	P	0.47302	0.893	P	0.44897	0.463	T	0.58629	-0.7603	10	0.72032	D	0.01	-8.748	11.2401	0.48964	0.0916:0.0:0.9084:0.0	.	32	Q14191	WRN_HUMAN	N	32	ENSP00000298139:K32N	ENSP00000298139:K32N	K	+	3	2	WRN	31035601	1.000000	0.71417	0.572000	0.28498	0.794000	0.44872	4.402000	0.59722	1.266000	0.44231	0.650000	0.86243	AAG		PASS	0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		Missense_Mutation	12	9	12	9	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36662792	36662792	+	Missense_Mutation	SNP	T	T	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr8:36662792T>A	ENST00000399881.3	+	4	494	c.457T>A	c.(457-459)Ttt>Att	p.F153I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	153					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F153I(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TAGTTTCTATTTTGGATTGAG	0.393																																						uc010lvw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(457-459)TTT>ATT		potassium channel, subfamily U, member 1							164.0	145.0	151.0					8																	36662792		1854	4090	5944	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36662792T>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.457T>A	8.37:g.36662792T>A	ENSP00000382770:p.Phe153Ile					KCNU1_uc003xjw.2_RNA	p.F153I	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	4	544	+			153			Helical; Name=Segment S2; (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.457T>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.917083	0.92249	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.97138	-4.26;-4.26	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.64402	U	0.000008	D	0.97136	0.9064	L	0.33624	1.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98175	1.0454	10	0.87932	D	0	-5.0278	14.5158	0.67818	0.0:0.0:0.0:1.0	.	153	A8MYU2	KCNU1_HUMAN	I	153	ENSP00000429951:F153I;ENSP00000382770:F153I	ENSP00000382770:F153I	F	+	1	0	KCNU1	36781950	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.675000	0.74493	2.080000	0.62538	0.533000	0.62120	TTT		PASS	0.393	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	13	4	13	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617287	77617287	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr8:77617287A>G	ENST00000521891.2	+	2	1412	c.964A>G	c.(964-966)Ata>Gta	p.I322V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.I322V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I322V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I322V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.I322V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCCGCCATAATACAGGGGAT	0.418										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(964-966)ATA>GTA		zinc finger homeodomain 4							119.0	112.0	114.0					8																	77617287		1846	4100	5946	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617287A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.964A>G	8.37:g.77617287A>G	ENSP00000430497:p.Ile322Val	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.I322V|ZFHX4_uc003yau.1_Missense_Mutation_p.I322V|ZFHX4_uc003yaw.1_Missense_Mutation_p.I322V	p.I322V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1351	+			322					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.964A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	9.272	1.046026	0.19748	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.62498	0.02;0.07;0.04;0.02	5.53	5.53	0.82687	.	0.000000	0.49916	U	0.000125	T	0.79399	0.4439	M	0.79258	2.445	0.80722	D	1	P;P;P;D	0.62365	0.913;0.948;0.948;0.991	P;D;D;D	0.72625	0.891;0.949;0.949;0.978	T	0.81970	-0.0689	10	0.72032	D	0.01	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	322;322;322;322	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	322	ENSP00000430497:I322V;ENSP00000399605:I322V;ENSP00000050961:I322V;ENSP00000430848:I322V	ENSP00000050961:I322V	I	+	1	0	ZFHX4	77779842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.761000	0.91691	2.324000	0.78689	0.533000	0.62120	ATA		PASS	0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		61	49	61	49	---	---	---	---
ST3GAL1	6482	broad.mit.edu	37	8	134488234	134488234	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr8:134488234G>C	ENST00000319914.5	-	4	1061	c.34C>G	c.(34-36)Ctc>Gtc	p.L12V	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.L12V|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.L12V|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.L12V			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	12				L -> V (in Ref. 2; AAA36612). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.L12V(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			AGGAAGGTGAGCACTTTCAGG	0.562																																						uc003yuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CTC>GTC		ST3 beta-galactoside alpha-2,3-sialyltransferase							92.0	93.0	93.0					8																	134488234		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488234G>C	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.34C>G	8.37:g.134488234G>C	ENSP00000318445:p.Leu12Val					ST3GAL1_uc003yum.2_Missense_Mutation_p.L12V	p.L12V	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		5	863	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		12	L -> V (in Ref. 2; AAA36612).		Cytoplasmic (Potential).		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.34C>G	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249468	0.22880	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634;ENST00000519924;ENST00000523855	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.55	4.57	0.56435	.	0.061399	0.64402	D	0.000003	T	0.16685	0.0401	L	0.59436	1.845	0.28763	N	0.900814	B	0.17852	0.024	B	0.12156	0.007	T	0.10753	-1.0616	10	0.20046	T	0.44	-8.2767	3.8419	0.08918	0.17:0.2496:0.5804:0.0	.	12	Q11201	SIA4A_HUMAN	V	12	ENSP00000318445:L12V;ENSP00000414073:L12V;ENSP00000428540:L12V;ENSP00000430515:L12V	ENSP00000318445:L12V	L	-	1	0	ST3GAL1	134557416	0.987000	0.35691	0.951000	0.38953	0.293000	0.27360	2.202000	0.42743	2.630000	0.89119	0.561000	0.74099	CTC		PASS	0.562	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		9	59	9	59	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377803	77377803	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr9:77377803G>A	ENST00000360774.1	-	26	4021	c.3784C>T	c.(3784-3786)Cta>Tta	p.L1262L	TRPM6_ENST00000449912.2_Silent_p.L1257L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Silent_p.L1262L|TRPM6_ENST00000361255.3_Silent_p.L1257L|TRPM6_ENST00000376864.4_Silent_p.L1262L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1262					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L1262L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGCTGCCTAGAACCTCTGCA	0.512																																						uc004ajl.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(3784-3786)CTA>TTA		transient receptor potential cation channel,							104.0	108.0	106.0					9																	77377803		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377803G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3784C>T	9.37:g.77377803G>A						TRPM6_uc004ajk.1_Silent_p.L1257L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.L218L	p.L1262L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4022	-			1262			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.3784C>T	CCDS6647.1																																																																																				PASS	0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		27	144	27	144	---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80923366	80923366	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr9:80923366G>A	ENST00000376588.3	+	6	675	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	PSAT1_ENST00000347159.2_Missense_Mutation_p.G203S	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	203					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)	p.G203S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GAAGAATGTTGGCTCTGCTGG	0.493																																					Colon(34;187 791 10662 18313 37609)	uc004ala.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(607-609)GGC>AGC		phosphoserine aminotransferase 1 isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						132.0	120.0	124.0					9																	80923366		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80923366G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.607G>A	9.37:g.80923366G>A	ENSP00000365773:p.Gly203Ser					PSAT1_uc004alb.2_Missense_Mutation_p.G203S	p.G203S	NM_058179	NP_478059	Q9Y617	SERC_HUMAN			6	675	+			203					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.607G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	36	5.779688	0.96929	.	.	ENSG00000135069	ENST00000421149;ENST00000347159;ENST00000376588	T;T	0.77229	-1.08;-1.08	5.74	5.74	0.90152	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.983;0.996	D	0.92395	0.5924	10	0.87932	D	0	-17.1438	19.915	0.97057	0.0:0.0:1.0:0.0	.	203;203	Q9Y617-2;Q9Y617	.;SERC_HUMAN	S	27;203;203	ENSP00000317606:G203S;ENSP00000365773:G203S	ENSP00000317606:G203S	G	+	1	0	PSAT1	80113186	1.000000	0.71417	0.915000	0.36163	0.993000	0.82548	9.409000	0.97331	2.707000	0.92482	0.557000	0.71058	GGC		PASS	0.493	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		18	76	18	76	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606392	84606392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr9:84606392C>A	ENST00000344803.2	+	4	1054	c.1007C>A	c.(1006-1008)tCa>tAa	p.S336*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	336					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S336*(2)									TCTGGTGGGTCATCCACCTCT	0.478																																						uc004amn.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1006-1008)TCA>TAA		hypothetical protein LOC389763							144.0	133.0	137.0					9																	84606392		1943	4134	6077	SO:0001587	stop_gained	389763					integral to membrane		g.chr9:84606392C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1007C>A	9.37:g.84606392C>A	ENSP00000341988:p.Ser336*						p.S336*	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1054	+			336						Nonsense_Mutation	SNP	ENST00000344803.2	37	c.1007C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253765	0.59212	.	.	ENSG00000214929	ENST00000344803	.	.	.	3.04	0.597	0.17504	.	1.556170	0.04307	N	0.348291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-1.0855	3.034	0.06116	0.0:0.1493:0.2546:0.5961	.	.	.	.	X	336	.	ENSP00000341988:S336X	S	+	2	0	FAM75D1	83796212	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.354000	0.20146	0.123000	0.18342	-0.378000	0.06908	TCA		PASS	0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		42	143	42	143	---	---	---	---
OR1N2	138882	broad.mit.edu	37	9	125316421	125316421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr9:125316421G>T	ENST00000373688.2	+	1	1031	c.973G>T	c.(973-975)Gga>Tga	p.G325*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	325						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G325*(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTTGTCAGTGGAAAAACATT	0.388																																						uc011lyx.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(973-975)GGA>TGA		olfactory receptor, family 1, subfamily N,							86.0	88.0	87.0					9																	125316421		2203	4300	6503	SO:0001587	stop_gained	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316421G>T		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.973G>T	9.37:g.125316421G>T	ENSP00000362792:p.Gly325*						p.G325*	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	973	+			325			Cytoplasmic (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Nonsense_Mutation	SNP	ENST00000373688.2	37	c.973G>T	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439172	0.63067	.	.	ENSG00000171501	ENST00000373688	.	.	.	4.02	-5.04	0.02964	.	1.159720	0.06652	U	0.762903	.	.	.	.	.	.	0.21782	N	0.999548	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	1.5559	0.02584	0.3693:0.2257:0.2887:0.1163	.	.	.	.	X	325	.	ENSP00000362792:G325X	G	+	1	0	OR1N2	124356242	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-0.687000	0.05156	-1.275000	0.02417	0.638000	0.83543	GGA		PASS	0.388	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			12	47	12	47	---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13231032	13231032	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr10:13231032A>G	ENST00000484800.2	+	10	1473	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G	MCM10_ENST00000378714.3_Missense_Mutation_p.D456G|MCM10_ENST00000378694.1_Missense_Mutation_p.D456G			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	457					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.D457G(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTGCCAAGATGGCTTTTAC	0.512																																						uc001ima.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1369-1371)GAT>GGT		minichromosome maintenance complex component 10							111.0	111.0	111.0					10																	13231032		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13231032A>G	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1370A>G	10.37:g.13231032A>G	ENSP00000418268:p.Asp457Gly					MCM10_uc001imb.2_Missense_Mutation_p.D456G|MCM10_uc001imc.2_Missense_Mutation_p.D456G	p.D457G	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			10	1471	+			457					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.1370A>G	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738716	0.49045	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.19105	2.18;2.18;2.17	5.62	5.62	0.85841	.	0.137817	0.64402	D	0.000005	T	0.19644	0.0472	L	0.32530	0.975	0.47621	D	0.999471	P;P;P	0.39131	0.512;0.661;0.531	B;B;B	0.38378	0.177;0.272;0.14	T	0.01743	-1.1283	10	0.42905	T	0.14	-13.6051	16.1283	0.81408	1.0:0.0:0.0:0.0	.	456;456;457	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	G	456;457;457;456	ENSP00000367986:D456G;ENSP00000418268:D457G;ENSP00000367966:D456G	ENSP00000354945:D457G	D	+	2	0	MCM10	13271038	1.000000	0.71417	0.889000	0.34880	0.686000	0.39977	5.084000	0.64462	2.263000	0.75096	0.533000	0.62120	GAT		PASS	0.512	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		32	97	32	97	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16967745	16967745	+	Missense_Mutation	SNP	T	T	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr10:16967745T>G	ENST00000377833.4	-	42	6365	c.6300A>C	c.(6298-6300)agA>agC	p.R2100S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2100	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R2100S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATGATCCCTCTGTCTGCAT	0.458																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(6298-6300)AGA>AGC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						85.0	71.0	76.0					10																	16967745		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16967745T>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6300A>C	10.37:g.16967745T>G	ENSP00000367064:p.Arg2100Ser						p.R2100S	NM_001081	NP_001072	O60494	CUBN_HUMAN			42	6352	-			2100			CUB 15.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6300A>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.821695	0.50633	.	.	ENSG00000107611	ENST00000377833	T	0.15603	2.41	5.65	3.31	0.37934	CUB (5);	0.000000	0.44688	D	0.000423	T	0.09555	0.0235	N	0.03608	-0.345	0.80722	D	1	P	0.44776	0.843	P	0.48815	0.591	T	0.29701	-1.0003	10	0.13108	T	0.6	.	9.0731	0.36504	0.0:0.2266:0.0:0.7734	.	2100	O60494	CUBN_HUMAN	S	2100	ENSP00000367064:R2100S	ENSP00000367064:R2100S	R	-	3	2	CUBN	17007751	0.998000	0.40836	0.995000	0.50966	0.950000	0.60333	0.390000	0.20768	0.424000	0.26061	0.533000	0.62120	AGA		PASS	0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		24	58	24	58	---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27444468	27444468	+	Missense_Mutation	SNP	T	T	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr10:27444468T>A	ENST00000375940.4	+	1	170	c.113T>A	c.(112-114)gTg>gAg	p.V38E	YME1L1_ENST00000376016.3_5'Flank|YME1L1_ENST00000375972.3_5'Flank|YME1L1_ENST00000326799.3_5'Flank|YME1L1_ENST00000477432.1_5'Flank|MASTL_ENST00000342386.6_Missense_Mutation_p.V38E|MASTL_ENST00000375946.4_Missense_Mutation_p.V38E			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.V38E(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCAGCATAGTGAAGCCCATT	0.562																																						uc001itm.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(112-114)GTG>GAG		microtubule associated serine/threonine							70.0	67.0	68.0					10																	27444468		2203	4300	6503	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27444468T>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.113T>A	10.37:g.27444468T>A	ENSP00000365107:p.Val38Glu					YME1L1_uc001iti.2_5'Flank|YME1L1_uc001itj.2_5'Flank|YME1L1_uc010qdl.1_5'Flank|YME1L1_uc009xkv.2_5'Flank|YME1L1_uc001itk.1_5'Flank|MASTL_uc001itl.2_Missense_Mutation_p.V38E|MASTL_uc009xkw.1_Missense_Mutation_p.V38E|MASTL_uc009xkx.1_RNA	p.V38E	NM_032844	NP_116233	Q96GX5	GWL_HUMAN			1	752	+			38			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.113T>A	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	T	33	5.254371	0.95336	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.39997	1.05;1.05;1.05	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169012	0.51477	D	0.000096	T	0.48696	0.1514	N	0.25245	0.725	0.80722	D	1	P;P;D	0.58970	0.941;0.952;0.984	P;P;P	0.59825	0.786;0.864;0.851	T	0.51490	-0.8699	10	0.66056	D	0.02	-10.6816	16.6288	0.85011	0.0:0.0:0.0:1.0	.	38;38;38	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	E	38	ENSP00000365113:V38E;ENSP00000343446:V38E;ENSP00000365107:V38E	ENSP00000343446:V38E	V	+	2	0	MASTL	27484474	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.294000	0.78760	2.326000	0.78906	0.533000	0.62120	GTG		PASS	0.562	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		14	55	14	55	---	---	---	---
PGBD3	267004	broad.mit.edu	37	10	50723771	50723771	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr10:50723771C>G	ENST00000374127.3	-	2	1591	c.1390G>C	c.(1390-1392)Gac>Cac	p.D464H	PGBD3_ENST00000508005.2_Missense_Mutation_p.D464H|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.D932H|PGBD3_ENST00000603152.1_Missense_Mutation_p.D932H|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D932H|ERCC6_ENST00000355832.5_Intron	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	464								p.D464H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAGCTCTGTCTACGCCTCCC	0.413																																						uc001jht.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(1390-1392)GAC>CAC		hypothetical protein LOC267004							190.0	175.0	180.0					10																	50723771		2203	4300	6503	SO:0001583	missense	267004							g.chr10:50723771C>G	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1390G>C	10.37:g.50723771C>G	ENSP00000363242:p.Asp464His					ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.D932H|PGBD3_uc001jhu.2_Missense_Mutation_p.D932H	p.D464H	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	1645	-			464					B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1390G>C	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065444	0.36470	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	0.468	0.468	0.16732	.	.	.	.	.	T	0.35941	0.0949	L	0.37561	1.115	0.20873	N	0.999836	D;D	0.89917	0.999;1.0	D;D	0.97110	0.991;1.0	T	0.13899	-1.0492	8	0.66056	D	0.02	-8.0005	.	.	.	.	932;464	E7EV46;Q8N328	.;PGBD3_HUMAN	H	464;464;932;932	ENSP00000363242:D464H;ENSP00000426963:D464H;ENSP00000423550:D932H;ENSP00000387966:D932H	ENSP00000387966:D932H	D	-	1	0	PGBD3;RP11-123B3.6	50393777	0.728000	0.28080	0.323000	0.25347	0.298000	0.27526	2.505000	0.45424	0.488000	0.27723	0.491000	0.48974	GAC		PASS	0.413	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			80	82	80	82	---	---	---	---
MAT1A	4143	broad.mit.edu	37	10	82034380	82034380	+	Silent	SNP	C	C	T	rs149163315	byFrequency	TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr10:82034380C>T	ENST00000372213.3	-	8	1241	c.981G>A	c.(979-981)ccG>ccA	p.P327P	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	327					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.P327P(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAATGGACAGCGGCTCGGCCA	0.572													C|||	3	0.000599042	0.0	0.0029	5008	,	,		18923	0.0		0.0	False		,,,				2504	0.001					uc001kbw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(979-981)CCG>CCA		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	C		1,4405	2.1+/-5.4	0,1,2202	138.0	123.0	128.0		981	-10.3	0.7	10	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAT1A	NM_000429.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		327/396	82034380	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82034380C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.981G>A	10.37:g.82034380C>T							p.P327P	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		8	1236	-			327					D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	c.981G>A	CCDS7365.1																																																																																				PASS	0.572	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		21	42	21	42	---	---	---	---
SFXN3	81855	broad.mit.edu	37	10	102795364	102795364	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr10:102795364G>A	ENST00000224807.5	+	4	740	c.284G>A	c.(283-285)cGc>cAc	p.R95H	SFXN3_ENST00000393459.1_Missense_Mutation_p.R91H	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	95					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)	p.R95H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTGATTGGCCGCATGTCAGCC	0.587																																						uc001ksp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)CGC>CAC		sideroflexin 3							122.0	92.0	102.0					10																	102795364		2203	4300	6503	SO:0001583	missense	81855				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:102795364G>A	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.284G>A	10.37:g.102795364G>A	ENSP00000224807:p.Arg95His					SFXN3_uc001ksq.2_Missense_Mutation_p.R95H|SFXN3_uc010qpx.1_Missense_Mutation_p.R95H	p.R95H	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	4	740	+		Colorectal(252;0.234)	95					Q8NCJ0|Q9NTP4	Missense_Mutation	SNP	ENST00000224807.5	37	c.284G>A	CCDS7508.2	.	.	.	.	.	.	.	.	.	.	G	31	5.093229	0.94149	.	.	ENSG00000107819	ENST00000393459;ENST00000224807	T;T	0.57595	0.39;0.39	5.11	4.19	0.49359	.	0.103262	0.64402	D	0.000005	T	0.80237	0.4586	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	D	0.86037	0.1517	10	0.87932	D	0	-15.974	14.1571	0.65424	0.0737:0.0:0.9262:0.0	.	95;95;95	B4DRS6;A6NCZ6;Q9BWM7	.;.;SFXN3_HUMAN	H	91;95	ENSP00000377103:R91H;ENSP00000224807:R95H	ENSP00000224807:R95H	R	+	2	0	SFXN3	102785354	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.802000	0.85969	2.652000	0.90054	0.561000	0.74099	CGC		PASS	0.587	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971		3	29	3	29	---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104679152	104679152	+	Missense_Mutation	SNP	C	C	G	rs371599593		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr10:104679152C>G	ENST00000369878.4	+	1	1103	c.915C>G	c.(913-915)atC>atG	p.I305M	CNNM2_ENST00000369875.3_Missense_Mutation_p.I305M|CNNM2_ENST00000433628.2_Missense_Mutation_p.I305M	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	305	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.I305M(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAGCGCATCGAGCCGGTGC	0.637																																						uc001kwm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(913-915)ATC>ATG		cyclin M2 isoform 1							50.0	44.0	46.0					10																	104679152		2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679152C>G	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.915C>G	10.37:g.104679152C>G	ENSP00000358894:p.Ile305Met					CNNM2_uc001kwn.2_Missense_Mutation_p.I305M|CNNM2_uc001kwl.2_Missense_Mutation_p.I305M	p.I305M	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1039	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	305			DUF21.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.915C>G	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030495	0.54790	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;D;D	0.89552	-2.53;-2.53;-2.53	4.32	4.32	0.51571	Domain of unknown function DUF21 (1);	0.046812	0.85682	D	0.000000	D	0.96034	0.8708	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	0.999;0.972;1.0	D;P;D	0.97110	0.98;0.879;1.0	D	0.96409	0.9303	10	0.87932	D	0	.	10.4839	0.44711	0.0:0.9096:0.0:0.0904	.	305;305;305	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	M	305	ENSP00000392875:I305M;ENSP00000358891:I305M;ENSP00000358894:I305M	ENSP00000286899:I305M	I	+	3	3	CNNM2	104669142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.129000	0.42055	1.935000	0.56089	0.561000	0.74099	ATC		PASS	0.637	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		19	17	19	17	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129914179	129914179	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr10:129914179C>G	ENST00000368654.3	-	7	868	c.493G>C	c.(493-495)Gac>Cac	p.D165H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	165					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.D165H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCGGTACTGTCTTCTTTGACA	0.418																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(493-495)GAC>CAC		antigen identified by monoclonal antibody Ki-67							199.0	188.0	192.0					10																	129914179		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129914179C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.493G>C	10.37:g.129914179C>G	ENSP00000357643:p.Asp165His					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.D165H	NM_002417	NP_002408	P46013	KI67_HUMAN			7	688	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	165					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.493G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856336	0.32791	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.22539	1.95	3.69	0.83	0.18854	.	0.753768	0.11289	N	0.579483	T	0.21881	0.0527	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.18178	-1.0345	9	.	.	.	.	5.9386	0.19179	0.0:0.6609:0.0:0.3391	.	165	P46013	KI67_HUMAN	H	165	ENSP00000357643:D165H	.	D	-	1	0	MKI67	129804169	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.517000	0.06275	0.195000	0.20347	0.655000	0.94253	GAC		PASS	0.418	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		36	103	36	103	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1101629	1101629	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:1101629G>A	ENST00000441003.2	+	42	7669	c.7642G>A	c.(7642-7644)Gtg>Atg	p.V2548M		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4910					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.V2548M(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGCAAGATGGTGCCTGGAAG	0.632																																						uc001lsx.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(14728-14730)GTG>ATG		mucin 2 precursor	Pranlukast(DB01411)						108.0	119.0	115.0					11																	1101629		2094	4225	6319	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1101629G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7642G>A	11.37:g.1101629G>A	ENSP00000415183:p.Val2548Met						p.V4910M	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	45	14755	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4910					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.14728G>A		.	.	.	.	.	.	.	.	.	.	G	6.971	0.549183	0.13374	.	.	ENSG00000198788	ENST00000441003	T	0.13089	2.62	3.72	1.55	0.23275	.	.	.	.	.	T	0.12305	0.0299	M	0.61703	1.905	0.09310	N	1	P	0.46277	0.875	B	0.38562	0.276	T	0.20638	-1.0269	9	0.48119	T	0.1	.	3.7924	0.08726	0.2571:0.2005:0.5424:0.0	.	2548	E7EUV1	.	M	2548	ENSP00000415183:V2548M	ENSP00000415183:V2548M	V	+	1	0	MUC2	1091629	0.003000	0.15002	0.000000	0.03702	0.231000	0.25187	1.558000	0.36309	0.464000	0.27142	0.561000	0.74099	GTG		PASS	0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		8	76	8	76	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651423	1651423	+	Missense_Mutation	SNP	G	G	C	rs76164438		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:1651423G>C	ENST00000399676.2	+	1	391	c.353G>C	c.(352-354)gGc>gCc	p.G118A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	118	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.G118A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.701																																						uc001lty.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(352-354)GGC>GCC		keratin associated protein 5-5							14.0	22.0	19.0					11																	1651423		1958	3943	5901	SO:0001583	missense	439915					keratin filament		g.chr11:1651423G>C	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.353G>C	11.37:g.1651423G>C	ENSP00000382584:p.Gly118Ala						p.G118A	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	391	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	118	Missing (in Ref. 1; BAD20201 and 2; CAF31639).		8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.353G>C	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.393260	0.00200	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01335	5.0	2.98	2.98	0.34508	.	.	.	.	.	T	0.02342	0.0072	M	0.78637	2.42	0.19775	N	0.999958	P	0.38827	0.649	B	0.34779	0.189	T	0.39941	-0.9589	9	0.21014	T	0.42	.	9.443	0.38679	0.0:0.0:1.0:0.0	.	118	Q701N2	KRA55_HUMAN	A	118;89	ENSP00000382584:G118A	ENSP00000382584:G118A	G	+	2	0	KRTAP5-5	1607999	0.991000	0.36638	0.997000	0.53966	0.025000	0.11179	3.998000	0.57024	1.240000	0.43803	0.418000	0.28097	GGC		PASS	0.701	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			3	65	3	65	---	---	---	---
CD81	975	broad.mit.edu	37	11	2415336	2415336	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:2415336C>G	ENST00000263645.5	+	3	449	c.193C>G	c.(193-195)Ctc>Gtc	p.L65V	CD81_ENST00000526072.1_5'UTR|CD81_ENST00000481687.1_Missense_Mutation_p.L71V|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.L103V|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	65					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)	p.L65V(1)		endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CATCTACATCCTCATCGCTGT	0.647																																						uc001lwf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)CTC>GTC		CD81 antigen							179.0	116.0	137.0					11																	2415336		2202	4298	6500	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2415336C>G		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.193C>G	11.37:g.2415336C>G	ENSP00000263645:p.Leu65Val					CD81_uc001lwg.1_Missense_Mutation_p.L58V|CD81_uc001lwh.1_5'Flank	p.L65V	NM_004356	NP_004347	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	426	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	65			Helical; (Potential).		P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.193C>G	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607503	0.66558	.	.	ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252;ENST00000481687	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	3.67	3.67	0.42095	.	0.083400	0.49916	D	0.000123	D	0.87034	0.6077	M	0.82132	2.575	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.63283	0.913;0.816	D	0.87301	0.2305	10	0.52906	T	0.07	.	9.976	0.41783	0.2028:0.7972:0.0:0.0	.	103;65	A6NMH8;P60033	.;CD81_HUMAN	V	65;60;54;57;103;58;71	ENSP00000263645:L65V;ENSP00000435633:L60V;ENSP00000433767:L54V;ENSP00000432497:L57V;ENSP00000370424:L103V;ENSP00000432249:L58V;ENSP00000432033:L71V	ENSP00000263645:L65V	L	+	1	0	CD81	2371912	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.970000	0.63742	2.079000	0.62486	0.462000	0.41574	CTC		PASS	0.647	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		3	58	3	58	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20057595	20057595	+	Silent	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:20057595C>T	ENST00000396087.3	+	13	3027	c.2928C>T	c.(2926-2928)agC>agT	p.S976S	NAV2_ENST00000311043.8_Silent_p.S39S|NAV2_ENST00000360655.4_Silent_p.S889S|NAV2_ENST00000349880.4_Silent_p.S953S|NAV2_ENST00000527559.2_Silent_p.S905S|NAV2_ENST00000540292.1_Silent_p.S907S|NAV2_ENST00000533917.1_Silent_p.S39S|NAV2_ENST00000396085.1_Silent_p.S953S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	976					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.S976S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCCATCAGCTCTTATGCCA	0.587																																						uc010rdm.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(2926-2928)AGC>AGT		neuron navigator 2 isoform 2							283.0	180.0	215.0					11																	20057595		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20057595C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2928C>T	11.37:g.20057595C>T						NAV2_uc001mpp.2_Silent_p.S889S|NAV2_uc001mpr.3_Silent_p.S953S|NAV2_uc001mpt.2_Silent_p.S39S|NAV2_uc009yhx.2_Silent_p.S39S|NAV2_uc009yhy.1_5'UTR	p.S976S	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			13	3289	+			976					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2928C>T	CCDS58126.1																																																																																				PASS	0.587	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		11	56	11	56	---	---	---	---
PDHX	8050	broad.mit.edu	37	11	34988250	34988250	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:34988250A>G	ENST00000227868.4	+	6	789	c.705A>G	c.(703-705)ccA>ccG	p.P235P	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000448838.3_Silent_p.P220P			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	235					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)	p.P235P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GACCAACTCCAGCCCCCACAG	0.522																																						uc001mvt.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(703-705)CCA>CCG		pyruvate dehydrogenase complex, component X							109.0	109.0	109.0					11																	34988250		2202	4298	6500	SO:0001819	synonymous_variant	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34988250A>G	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.705A>G	11.37:g.34988250A>G						PDHX_uc010rep.1_Silent_p.P220P|PDHX_uc010req.1_Intron	p.P235P	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		6	1231	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	235					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	37	c.705A>G	CCDS7896.1																																																																																				PASS	0.522	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		3	98	3	98	---	---	---	---
ARHGAP1	392	broad.mit.edu	37	11	46709766	46709766	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:46709766G>C	ENST00000311956.4	-	4	371	c.274C>G	c.(274-276)Cga>Gga	p.R92G		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	92	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.R92G(1)		endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGGGGCATTCGACAGGCACTA	0.547																																						uc001ndd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(274-276)CGA>GGA		Rho GTPase activating protein 1							124.0	96.0	105.0					11																	46709766		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46709766G>C	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.274C>G	11.37:g.46709766G>C	ENSP00000310491:p.Arg92Gly					ARHGAP1_uc009yle.1_Missense_Mutation_p.R92G	p.R92G	NM_004308	NP_004299	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	4	343	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	92			CRAL-TRIO.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.274C>G	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.140108|4.140108	0.77775|0.77775	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000311956;ENST00000443332;ENST00000525488|ENST00000528837	T;T|.	0.63744|.	-0.06;-0.06|.	5.58|5.58	4.63|4.63	0.57726|0.57726	Cellular retinaldehyde-binding/triple function, C-terminal (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82995|0.82995	0.5158|0.5158	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.76071|.	0.987|.	D|D	0.85894|0.85894	0.1430|0.1430	10|5	0.72032|.	D|.	0.01|.	.|.	15.8723|15.8723	0.79129|0.79129	0.0:0.0:0.8641:0.1359|0.0:0.0:0.8641:0.1359	.|.	92|.	Q07960|.	RHG01_HUMAN|.	G|W	92|89	ENSP00000310491:R92G;ENSP00000432794:R92G|.	ENSP00000310491:R92G|.	R|S	-|-	1|2	2|0	ARHGAP1|ARHGAP1	46666342|46666342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.396000|2.396000	0.44468|0.44468	2.645000|2.645000	0.89757|0.89757	0.655000|0.655000	0.94253|0.94253	CGA|TCG		PASS	0.547	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		6	32	6	32	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55658946	55658946	+	Silent	SNP	G	G	A	rs145711485	byFrequency	TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:55658946G>A	ENST00000449290.2	+	7	1289	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V	TRIM51_ENST00000244891.3_Silent_p.V256V	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	399	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V399V(1)|p.V240V(1)									CACTTGTGGTGCAATATGTTC	0.448													g|||	2	0.000399361	0.0015	0.0	5008	,	,		18810	0.0		0.0	False		,,,				2504	0.0					uc010rip.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1195-1197)GTG>GTA		SPRY domain containing 5		G		7,4285		0,7,2139	40.0	39.0	39.0		1197	-2.7	0.0	11	dbSNP_134	39	0,8260		0,0,4130	no	coding-synonymous	SPRYD5	NM_032681.3		0,7,6269	AA,AG,GG		0.0,0.1631,0.0558		399/453	55658946	7,12545	2146	4130	6276	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55658946G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1197G>A	11.37:g.55658946G>A						SPRYD5_uc010riq.1_Silent_p.V256V	p.V399V	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1289	+		all_epithelial(135;0.226)	399			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1197G>A																																																																																					PASS	0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		33	55	33	55	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62300231	62300231	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:62300231G>A	ENST00000378024.4	-	5	1932	c.1658C>T	c.(1657-1659)aCa>aTa	p.T553I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	553					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.T553I(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTAGGGCCTGTCAAGGTTCC	0.517																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1657-1659)ACA>ATA		AHNAK nucleoprotein isoform 1							91.0	99.0	96.0					11																	62300231		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300231G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1658C>T	11.37:g.62300231G>A	ENSP00000367263:p.Thr553Ile					AHNAK_uc001ntk.1_Intron	p.T553I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	1958	-		Melanoma(852;0.155)	553					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1658C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	7.563	0.665088	0.14710	.	.	ENSG00000124942	ENST00000378024	T	0.00737	5.76	5.03	1.95	0.26073	.	2.284170	0.02141	N	0.057184	T	0.01092	0.0036	L	0.56769	1.78	0.09310	N	1	P	0.40553	0.721	B	0.34652	0.187	T	0.46527	-0.9185	10	0.46703	T	0.11	0.0164	1.6943	0.02859	0.1857:0.1609:0.488:0.1654	.	553	Q09666	AHNK_HUMAN	I	553	ENSP00000367263:T553I	ENSP00000367263:T553I	T	-	2	0	AHNAK	62056807	0.004000	0.15560	0.072000	0.20136	0.776000	0.43924	0.873000	0.28052	0.532000	0.28657	0.555000	0.69702	ACA		PASS	0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		21	195	21	195	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134037950	134037950	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr11:134037950C>G	ENST00000534548.2	-	27	3578	c.3514G>C	c.(3514-3516)Gat>Cat	p.D1172H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1172					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.D1172H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCCATGTCATCTTCTTCCATA	0.453																																						uc001qhd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(3514-3516)GAT>CAT		non-SMC condensin II complex, subunit D3							252.0	213.0	227.0					11																	134037950		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134037950C>G	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3514G>C	11.37:g.134037950C>G	ENSP00000433681:p.Asp1172His					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.D122H	p.D1172H	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	27	4120	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1172					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3514G>C	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	c	28.1	4.889185	0.91889	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.68479	-0.33;-0.33;-0.33	5.5	5.5	0.81552	Armadillo-type fold (1);	0.284386	0.43260	D	0.000584	T	0.81221	0.4777	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65443	0.868;0.935	T	0.82635	-0.0360	10	0.72032	D	0.01	-12.4742	19.4214	0.94723	0.0:1.0:0.0:0.0	.	1172;232	P42695;Q96FA6	CNDD3_HUMAN;.	H	1172;77;208	ENSP00000433681:D1172H;ENSP00000432532:D77H;ENSP00000435173:D208H	ENSP00000432532:D77H	D	-	1	0	NCAPD3	133543160	1.000000	0.71417	0.966000	0.40874	0.866000	0.49608	4.678000	0.61641	2.610000	0.88304	0.580000	0.79431	GAT		PASS	0.453	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		36	108	36	108	---	---	---	---
A2M	2	broad.mit.edu	37	12	9227264	9227264	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:9227264A>G	ENST00000318602.7	-	29	3955	c.3648T>C	c.(3646-3648)taT>taC	p.Y1216Y		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1216					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.Y1216Y(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGGCCGTGAGATAAGCGAGGA	0.592																																						uc001qvk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(3646-3648)TAT>TAC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						75.0	75.0	75.0					12																	9227264		2203	4300	6503	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9227264A>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3648T>C	12.37:g.9227264A>G						A2M_uc001qvj.1_Silent_p.Y258Y|A2M_uc009zgk.1_Silent_p.Y1066Y	p.Y1216Y	NM_000014	NP_000005	P01023	A2MG_HUMAN			29	3761	-			1216					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3648T>C	CCDS44827.1																																																																																				PASS	0.592	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		7	39	7	39	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45000994	45000994	+	Missense_Mutation	SNP	A	A	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:45000994A>C	ENST00000429094.2	-	15	2125	c.1621T>G	c.(1621-1623)Tgt>Ggt	p.C541G	NELL2_ENST00000452445.2_Missense_Mutation_p.C541G|NELL2_ENST00000333837.4_Missense_Mutation_p.C564G|NELL2_ENST00000551601.1_Missense_Mutation_p.C540G|NELL2_ENST00000549027.1_Missense_Mutation_p.C540G|NELL2_ENST00000437801.2_Missense_Mutation_p.C591G|NELL2_ENST00000395487.2_Missense_Mutation_p.C540G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	541	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.C591G(1)|p.C541G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGGCAGGCACACACATTAGCG	0.383																																						uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1621-1623)TGT>GGT		NEL-like protein 2 isoform b precursor							87.0	83.0	85.0					12																	45000994		2203	4299	6502	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45000994A>C	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1621T>G	12.37:g.45000994A>C	ENSP00000390680:p.Cys541Gly					NELL2_uc001rof.3_Missense_Mutation_p.C540G|NELL2_uc001roh.2_Missense_Mutation_p.C541G|NELL2_uc009zkd.2_Missense_Mutation_p.C540G|NELL2_uc010skz.1_Missense_Mutation_p.C591G|NELL2_uc010sla.1_Missense_Mutation_p.C564G|NELL2_uc001roi.1_Missense_Mutation_p.C541G|NELL2_uc010slb.1_Missense_Mutation_p.C540G	p.C541G	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	15	2216	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	541			EGF-like 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1621T>G	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347216	0.82022	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	D;D;D;D;D;D;D	0.99773	-4.51;-4.51;-6.72;-4.51;-4.51;-4.45;-4.51	5.68	5.68	0.88126	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	H	0.99555	4.625	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.986;0.999;0.996;0.991;0.999	D	0.96074	0.9048	10	0.87932	D	0	-12.1998	16.2164	0.82224	1.0:0.0:0.0:0.0	.	564;591;540;541;540	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	G	540;541;540;541;540;564;591;540	ENSP00000378866:C540G;ENSP00000390680:C541G;ENSP00000449332:C540G;ENSP00000394612:C541G;ENSP00000447927:C540G;ENSP00000327988:C564G;ENSP00000416341:C591G	ENSP00000327988:C564G	C	-	1	0	NELL2	43287261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.587000	0.90810	2.289000	0.77006	0.533000	0.62120	TGT		PASS	0.383	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		7	35	7	35	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48391460	48391460	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:48391460C>G	ENST00000380518.3	-	7	624	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q	COL2A1_ENST00000337299.6_Missense_Mutation_p.E85Q	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	154					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E85Q(1)|p.E154Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTCCCAGGTTCTCCATCTCTG	0.582																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(460-462)GAA>CAA		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						59.0	65.0	63.0					12																	48391460		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48391460C>G	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.460G>C	12.37:g.48391460C>G	ENSP00000369889:p.Glu154Gln					COL2A1_uc001rqv.2_Missense_Mutation_p.E85Q	p.E154Q	NM_001844	NP_001835	P02458	CO2A1_HUMAN			7	641	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	154					A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.460G>C	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466711	0.43839	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94046	-3.34;-3.34	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	L	0.58428	1.81	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.81914	0.979;0.995	D	0.93790	0.7091	10	0.28530	T	0.3	.	17.7137	0.88330	0.0:1.0:0.0:0.0	.	85;154	P02458-1;P02458	.;CO2A1_HUMAN	Q	154;85;85	ENSP00000369889:E154Q;ENSP00000338213:E85Q	ENSP00000338213:E85Q	E	-	1	0	COL2A1	46677727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.518000	0.67068	2.788000	0.95919	0.650000	0.86243	GAA		PASS	0.582	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		19	77	19	77	---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54110074	54110074	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:54110074C>A	ENST00000550804.1	-	8	1035	c.975G>T	c.(973-975)aaG>aaT	p.K325N	CALCOCO1_ENST00000548263.1_Missense_Mutation_p.K325N|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.K325N|CALCOCO1_ENST00000430117.2_Intron			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	325					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.K325N(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTAGGGTGTCCTTCATCTGGG	0.562																																						uc001sef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(973-975)AAG>AAT		coiled-coil transcriptional coactivator isoform							98.0	85.0	90.0					12																	54110074		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54110074C>A	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.975G>T	12.37:g.54110074C>A	ENSP00000449960:p.Lys325Asn					CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Intron|CALCOCO1_uc010son.1_Missense_Mutation_p.K202N|CALCOCO1_uc001seh.2_Missense_Mutation_p.K325N|CALCOCO1_uc009znd.2_Missense_Mutation_p.K325N|CALCOCO1_uc001seg.2_Intron|CALCOCO1_uc010soo.1_Missense_Mutation_p.K318N	p.K325N	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			8	1119	-			325			Potential.		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.975G>T	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288586	0.40494	.	.	ENSG00000012822	ENST00000342760;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T	0.11495	2.77;2.77;2.77	4.78	0.983	0.19767	.	0.000000	0.48286	D	0.000195	T	0.09468	0.0233	L	0.27053	0.805	0.36454	D	0.86628	P;P;P;P	0.43826	0.611;0.782;0.782;0.818	B;B;B;P	0.47864	0.346;0.423;0.423;0.559	T	0.28202	-1.0051	10	0.44086	T	0.13	-36.8512	6.3336	0.21285	0.0:0.5985:0.0:0.4015	.	318;325;325;325	B4DG60;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;CACO1_HUMAN	N	2;325;263;325;325;318;202	ENSP00000262059:K325N;ENSP00000447647:K325N;ENSP00000449960:K325N	ENSP00000262059:K325N	K	-	3	2	CALCOCO1	52396341	0.992000	0.36948	0.998000	0.56505	0.918000	0.54935	1.067000	0.30616	0.344000	0.23847	-0.140000	0.14226	AAG		PASS	0.562	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		26	80	26	80	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78593181	78593181	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:78593181A>G	ENST00000397909.2	+	37	6758	c.6585A>G	c.(6583-6585)aaA>aaG	p.K2195K	NAV3_ENST00000541270.1_Silent_p.K25K|NAV3_ENST00000536525.2_Silent_p.K2173K|NAV3_ENST00000266692.7_Silent_p.K1996K|NAV3_ENST00000228327.6_Silent_p.K2173K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2195						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.K2173K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCGAAGAAAACTCATAGAGA	0.333										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6583-6585)AAA>AAG		neuron navigator 3							93.0	94.0	93.0					12																	78593181		1827	4075	5902	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593181A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6585A>G	12.37:g.78593181A>G		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.K2173K|NAV3_uc010sub.1_Silent_p.K1652K|NAV3_uc009zsf.2_Silent_p.K1004K	p.K2195K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			37	6758	+			2195					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.6585A>G		.	.	.	.	.	.	.	.	.	.	A	10.15	1.271848	0.23221	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	T	0.73171	0.3553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72268	-0.4343	4	.	.	.	-23.1004	16.2826	0.82703	1.0:0.0:0.0:0.0	.	.	.	.	A	1068;63	.	.	T	+	1	0	NAV3	77117312	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.184000	0.65070	2.307000	0.77673	0.528000	0.53228	ACT		PASS	0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		51	67	51	67	---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	101018492	101018492	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:101018492A>G	ENST00000539410.1	+	9	2295	c.1909A>G	c.(1909-1911)Aag>Gag	p.K637E	GAS2L3_ENST00000537247.1_Missense_Mutation_p.K533E|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K637E|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K637E			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	637					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.K637E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GACTGTCGCTAAGAGCCAGCA	0.512																																						uc001thu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1909-1911)AAG>GAG		growth arrest-specific 2 like 3							79.0	73.0	75.0					12																	101018492		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101018492A>G	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1909A>G	12.37:g.101018492A>G	ENSP00000439672:p.Lys637Glu					GAS2L3_uc009zty.2_Missense_Mutation_p.K637E|GAS2L3_uc001thv.2_Missense_Mutation_p.K533E	p.K637E	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			10	2135	+			637					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1909A>G	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701719	0.48307	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.33654	1.45;1.45;1.4;1.45	5.54	4.39	0.52855	.	0.817946	0.11021	N	0.608392	T	0.38348	0.1037	M	0.61703	1.905	0.09310	N	1	P	0.48694	0.914	B	0.41374	0.355	T	0.18209	-1.0344	10	0.49607	T	0.09	-6.3539	11.4657	0.50237	0.9293:0.0:0.0707:0.0	.	637	Q86XJ1	GA2L3_HUMAN	E	637;637;533;637	ENSP00000266754:K637E;ENSP00000448955:K637E;ENSP00000442406:K533E;ENSP00000439672:K637E	ENSP00000266754:K637E	K	+	1	0	GAS2L3	99542623	0.888000	0.30383	0.002000	0.10522	0.014000	0.08584	2.740000	0.47418	0.936000	0.37367	0.383000	0.25322	AAG		PASS	0.512	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		6	88	6	88	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101768637	101768637	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:101768637G>C	ENST00000261637.4	+	55	7357	c.7183G>C	c.(7183-7185)Gaa>Caa	p.E2395Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2395					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E2395Q(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGTGGAAAGTGAAGGAGTTGA	0.388																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(7183-7185)GAA>CAA		down-regulated in metastasis							177.0	178.0	178.0					12																	101768637		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101768637G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7183G>C	12.37:g.101768637G>C	ENSP00000261637:p.Glu2395Gln						p.E2395Q	NM_014503	NP_055318	O75691	UTP20_HUMAN			55	7339	+			2395					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7183G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926550	0.92319	.	.	ENSG00000120800	ENST00000261637	T	0.20200	2.09	6.04	6.04	0.98038	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	M	0.82517	2.595	0.80722	D	1	D	0.64830	0.994	D	0.68039	0.955	T	0.33574	-0.9863	10	0.16896	T	0.51	-26.0026	20.1899	0.98228	0.0:0.0:1.0:0.0	.	2395	O75691	UTP20_HUMAN	Q	2395	ENSP00000261637:E2395Q	ENSP00000261637:E2395Q	E	+	1	0	UTP20	100292768	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.979000	0.76154	2.873000	0.98535	0.563000	0.77884	GAA		PASS	0.388	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		30	171	30	171	---	---	---	---
PTPN11	5781	broad.mit.edu	37	12	112893784	112893784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:112893784G>T	ENST00000351677.2	+	6	871	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	PTPN11_ENST00000392597.1_Nonsense_Mutation_p.E225*	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	225					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.E225*(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAATGCTGCTGAAATAGAAAG	0.343			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						c.(673-675)GAA>TAA		protein tyrosine phosphatase, non-receptor type							59.0	55.0	57.0					12																	112893784		2203	4300	6503	SO:0001587	stop_gained	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112893784G>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.673G>T	12.37:g.112893784G>T	ENSP00000340944:p.Glu225*					PTPN11_uc001ttw.1_Nonsense_Mutation_p.E225*	p.E225*	NM_002834	NP_002825	Q06124	PTN11_HUMAN			6	1053	+			225					A8K1D9|Q96HD7	Nonsense_Mutation	SNP	ENST00000351677.2	37	c.673G>T	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	36	5.925069	0.97110	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	.	.	.	5.03	5.03	0.67393	.	0.094721	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	11.8093	0.52173	0.0806:0.0:0.9194:0.0	.	.	.	.	X	225	.	ENSP00000340944:E225X	E	+	1	0	PTPN11	111378167	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.301000	0.72782	2.341000	0.79615	0.455000	0.32223	GAA		PASS	0.343	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			21	58	21	58	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124326030	124326030	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:124326030G>A	ENST00000409039.3	+	29	4969	c.4944G>A	c.(4942-4944)atG>atA	p.M1648I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1648	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M1648I(1)|p.M240I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAATGAGATGAGAAGAACTA	0.463																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4942-4944)ATG>ATA		dynein, axonemal, heavy chain 10							114.0	117.0	116.0					12																	124326030		1953	4136	6089	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124326030G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4944G>A	12.37:g.124326030G>A	ENSP00000386770:p.Met1648Ile						p.M1648I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4969	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1648			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4944G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269130	0.59540	.	.	ENSG00000197653	ENST00000409039	T	0.68025	-0.3	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	U	0.000000	D	0.86372	0.5917	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89471	0.3743	10	0.66056	D	0.02	.	18.7853	0.91952	0.0:0.0:1.0:0.0	.	1648	Q8IVF4	DYH10_HUMAN	I	1648	ENSP00000386770:M1648I	ENSP00000386770:M1648I	M	+	3	0	DNAH10	122891983	1.000000	0.71417	0.743000	0.31040	0.037000	0.13140	9.619000	0.98369	2.457000	0.83068	0.561000	0.74099	ATG		PASS	0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			74	38	74	38	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465138	125465138	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr12:125465138A>G	ENST00000308736.2	-	4	734	c.636T>C	c.(634-636)gcT>gcC	p.A212A	DHX37_ENST00000544745.1_5'UTR	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	212							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.A212A(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CAGTCATCCCAGCCGGCACGG	0.692																																						uc001ugy.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(634-636)GCT>GCC		DEAH (Asp-Glu-Ala-His) box polypeptide 37							38.0	40.0	39.0					12																	125465138		2203	4299	6502	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465138A>G	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.636T>C	12.37:g.125465138A>G							p.A212A	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	735	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		212					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.636T>C	CCDS9261.1																																																																																				PASS	0.692	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		3	46	3	46	---	---	---	---
SLC7A1	6541	broad.mit.edu	37	13	30096564	30096564	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr13:30096564C>T	ENST00000380752.5	-	8	1465	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	360					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.R360Q(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATAGATAACCCGAGGCATGGG	0.488																																						uc001uso.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)CGG>CAG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						201.0	173.0	182.0					13																	30096564		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30096564C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1079G>A	13.37:g.30096564C>T	ENSP00000370128:p.Arg360Gln						p.R360Q	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	8	1466	-		Lung SC(185;0.0257)|Breast(139;0.238)	360			Cytoplasmic (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1079G>A	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314157	0.95655	.	.	ENSG00000139514	ENST00000380752	D	0.93659	-3.26	4.89	4.89	0.63831	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98003	1.0361	10	0.54805	T	0.06	.	17.5927	0.88001	0.0:1.0:0.0:0.0	.	360	P30825	CTR1_HUMAN	Q	360	ENSP00000370128:R360Q	ENSP00000370128:R360Q	R	-	2	0	SLC7A1	28994564	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	7.560000	0.82277	2.717000	0.92951	0.650000	0.86243	CGG		PASS	0.488	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		38	28	38	28	---	---	---	---
UBL3	5412	broad.mit.edu	37	13	30423650	30423650	+	Splice_Site	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr13:30423650A>G	ENST00000380680.4	-	1	1171	c.26T>C	c.(25-27)aTg>aCg	p.M9T		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	9						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.M9T(1)		large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		GTCACTTACCATATCCGCCGG	0.423																																						uc001usp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)ATG>ACG		ubiquitin-like 3 precursor							132.0	120.0	124.0					13																	30423650		2203	4300	6503	SO:0001630	splice_region_variant	5412					intracellular|plasma membrane		g.chr13:30423650A>G	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.27+1T>C	13.37:g.30423650A>G							p.M9T	NM_007106	NP_009037	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	1	1171	-		Lung SC(185;0.0281)	9					B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	c.26T>C	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	A	8.847	0.943668	0.18281	.	.	ENSG00000122042	ENST00000380680	.	.	.	4.69	4.69	0.59074	.	0.151775	0.64402	D	0.000016	T	0.23210	0.0561	N	0.02011	-0.69	0.41229	D	0.986566	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	9	0.13470	T	0.59	-20.1766	10.4608	0.44578	1.0:0.0:0.0:0.0	.	9	O95164	UBL3_HUMAN	T	9	.	ENSP00000370055:M9T	M	-	2	0	UBL3	29321650	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.014000	0.57145	1.970000	0.57323	0.459000	0.35465	ATG		PASS	0.423	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106	Missense_Mutation	12	36	12	36	---	---	---	---
COG6	57511	broad.mit.edu	37	13	40233518	40233518	+	Silent	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr13:40233518C>G	ENST00000455146.3	+	2	221	c.171C>G	c.(169-171)ctC>ctG	p.L57L	COG6_ENST00000416691.1_Silent_p.L57L	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	57					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.L57L(1)		NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAGAAGCTCTCAAGGCACTTT	0.328																																						uc001uxh.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)|skin(1)	2						c.(169-171)CTC>CTG		component of oligomeric golgi complex 6 isoform							84.0	84.0	84.0					13																	40233518		2203	4300	6503	SO:0001819	synonymous_variant	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40233518C>G	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.171C>G	13.37:g.40233518C>G						COG6_uc001uxi.2_Silent_p.L5L|COG6_uc010acb.2_Silent_p.L57L	p.L57L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	2	271	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	57					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	c.171C>G	CCDS9370.1																																																																																				PASS	0.328	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			26	19	26	19	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20848129	20848130	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr14:20848129_20848130GC>TA	ENST00000262715.5	-	35	5126_5127	c.5086_5087GC>TA	c.(5086-5088)GCc>TAc	p.A1696Y	TEP1_ENST00000545983.1_Missense_Mutation_p.A34Y|TEP1_ENST00000556935.1_Missense_Mutation_p.A1588Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1696					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.A1696D(1)|p.A1696Y(1)|p.A1696S(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGTCCCATTGGCAGTGCCCACA	0.52																																						uc001vxe.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)	5						c.(5086-5088)GCC>GAC|c.(5086-5088)GCC>TCC		telomerase-associated protein 1																																				SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20848129G>T|g.chr14:20848130C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5086_5087delinsTA	14.37:g.20848129_20848130delinsTA	ENSP00000262715:p.Ala1696Tyr					TEP1_uc010ahk.2_Missense_Mutation_p.A1039D|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1588D|TEP1_uc010tlh.1_Missense_Mutation_p.A34D|TEP1_uc010ahk.2_Missense_Mutation_p.A1039S|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1588S|TEP1_uc010tlh.1_Missense_Mutation_p.A34S	p.A1696D|p.A1696S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	35	5127|5126	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1696			WD 2.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5087C>A|c.5086G>T	CCDS9548.1																																																																																				PASS	0.520	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		14	43|42	14	42	---	---	---	---
EDDM3B	64184	broad.mit.edu	37	14	21238568	21238568	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr14:21238568G>C	ENST00000326783.3	+	2	357	c.259G>C	c.(259-261)Gat>Cat	p.D87H		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	87						extracellular region (GO:0005576)		p.D87H(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CAACTGGATGGATCGCTTCCG	0.413																																						uc001vyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)GAT>CAT		human epididymis-specific 3 beta precursor							112.0	105.0	107.0					14																	21238568		2203	4300	6503	SO:0001583	missense	64184				spermatid development	extracellular region		g.chr14:21238568G>C	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"""family with sequence similarity 12, member B (epididymal)"""	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.259G>C	14.37:g.21238568G>C	ENSP00000314810:p.Asp87His						p.D87H	NM_022360	NP_071755	P56851	EP3B_HUMAN			2	357	+			87					A0PK89	Missense_Mutation	SNP	ENST00000326783.3	37	c.259G>C	CCDS9557.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372634	0.24857	.	.	ENSG00000181552	ENST00000326783	T	0.73047	-0.71	3.98	2.1	0.27182	Ribonuclease A, domain (3);	0.434207	0.19350	N	0.116428	T	0.71178	0.3309	L	0.50333	1.59	0.09310	N	1	D	0.61080	0.989	P	0.57009	0.811	T	0.61073	-0.7136	10	0.72032	D	0.01	.	5.2084	0.15302	0.1172:0.2106:0.6722:0.0	.	87	P56851	EP3B_HUMAN	H	87	ENSP00000314810:D87H	ENSP00000314810:D87H	D	+	1	0	EDDM3B	20308408	0.028000	0.19301	0.001000	0.08648	0.006000	0.05464	0.930000	0.28858	0.320000	0.23234	0.511000	0.50034	GAT		PASS	0.413	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			31	25	31	25	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21542304	21542304	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr14:21542304G>A	ENST00000298694.4	+	3	542	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E139K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	139						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E139K(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGTGCCCAATGAGGCTTGTGC	0.617																																						uc001vzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GAG>AAG		hypothetical protein LOC55701							60.0	66.0	64.0					14																	21542304		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542304G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.415G>A	14.37:g.21542304G>A	ENSP00000298694:p.Glu139Lys					FLJ10357_uc001vzn.1_Missense_Mutation_p.E139K|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	p.E139K	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	3	444	+	all_cancers(95;0.00185)		139					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.415G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551257	0.45383	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02525	4.32;4.26	4.81	4.81	0.61882	.	0.000000	0.49305	D	0.000147	T	0.04952	0.0133	L	0.29908	0.895	0.21220	N	0.999756	D;D	0.62365	0.963;0.991	B;P	0.59595	0.438;0.86	T	0.44143	-0.9347	10	0.11794	T	0.64	.	8.8969	0.35470	0.0988:0.0:0.9012:0.0	.	139;139	Q8TER5;G3V3N2	ARH40_HUMAN;.	K	139	ENSP00000298694:E139K;ENSP00000298693:E139K	ENSP00000298693:E139K	E	+	1	0	ARHGEF40	20612144	0.854000	0.29725	1.000000	0.80357	0.923000	0.55619	3.899000	0.56288	2.504000	0.84457	0.561000	0.74099	GAG		PASS	0.617	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			26	53	26	53	---	---	---	---
PTGER2	5732	broad.mit.edu	37	14	52794042	52794042	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr14:52794042C>T	ENST00000245457.5	+	2	1101	c.947C>T	c.(946-948)gCc>gTc	p.A316V	PTGER2_ENST00000557436.1_Missense_Mutation_p.A61V	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	316					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.A316V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGGGTCTTTGCCATCCTTAGG	0.403																																						uc001wzr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(946-948)GCC>GTC		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						99.0	95.0	96.0					14																	52794042		2203	4300	6503	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52794042C>T		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.947C>T	14.37:g.52794042C>T	ENSP00000245457:p.Ala316Val						p.A316V	NM_000956	NP_000947	P43116	PE2R2_HUMAN			2	1198	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		316			Helical; Name=7; (Potential).		D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.947C>T	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890774	0.33348	.	.	ENSG00000125384	ENST00000557436;ENST00000245457	T;T	0.38560	1.13;1.13	5.56	1.25	0.21368	.	0.419096	0.28230	N	0.016118	T	0.31451	0.0797	L	0.43152	1.355	0.29513	N	0.854081	B	0.06786	0.001	B	0.08055	0.003	T	0.21008	-1.0258	10	0.32370	T	0.25	-7.8861	10.1423	0.42742	0.0:0.6733:0.0:0.3267	.	316	P43116	PE2R2_HUMAN	V	61;316	ENSP00000450933:A61V;ENSP00000245457:A316V	ENSP00000245457:A316V	A	+	2	0	PTGER2	51863792	0.954000	0.32549	1.000000	0.80357	0.999000	0.98932	0.047000	0.14056	0.288000	0.22398	0.650000	0.86243	GCC		PASS	0.403	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			4	99	4	99	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69262518	69262518	+	5'Flank	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr14:69262518G>C	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000336440.3_5'Flank|ZFP36L1_ENST00000408913.2_Missense_Mutation_p.P165R	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P165R(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACGTCATTTCGGGGACTTTCC	0.592																																						uc001xkj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)CCG>CGG		hypothetical protein LOC400223							45.0	55.0	52.0					14																	69262518		2176	4229	6405	SO:0001631	upstream_gene_variant	400223							g.chr14:69262518G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262518G>C	Exception_encountered					ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	p.P165R	NM_207442	NP_997325				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)	1	673	-								Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.494C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058394	0.36277	.	.	ENSG00000185650	ENST00000408913	.	.	.	3.73	0.783	0.18572	.	.	.	.	.	T	0.41858	0.1177	.	.	.	0.24601	N	0.993773	.	.	.	.	.	.	T	0.39663	-0.9603	5	0.87932	D	0	.	7.4648	0.27316	0.31:0.0:0.69:0.0	.	.	.	.	R	165	.	ENSP00000386220:P165R	P	-	2	0	ZFP36L1	68332271	0.936000	0.31750	0.999000	0.59377	0.960000	0.62799	-0.084000	0.11268	0.349000	0.23975	0.313000	0.20887	CCG		PASS	0.592	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			4	135	4	135	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73459962	73459962	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr14:73459962A>G	ENST00000556143.1	-	4	1812	c.1092T>C	c.(1090-1092)acT>acC	p.T364T	ZFYVE1_ENST00000318876.5_Silent_p.T364T|ZFYVE1_ENST00000553891.1_Silent_p.T364T	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	364					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.T364T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GAGGGTTGTAAGTCCTCGTTC	0.562																																						uc001xnm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1090-1092)ACT>ACC		zinc finger, FYVE domain containing 1 isoform 1							79.0	82.0	81.0					14																	73459962		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73459962A>G	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1092T>C	14.37:g.73459962A>G						ZFYVE1_uc010arj.2_Silent_p.T364T	p.T364T	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	4	1732	-		all_lung(585;1.33e-09)	364					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.1092T>C	CCDS9811.1																																																																																				PASS	0.562	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		26	70	26	70	---	---	---	---
IFI27	3429	broad.mit.edu	37	14	94582193	94582193	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr14:94582193T>C	ENST00000555744.1	+	4	376	c.188T>C	c.(187-189)aTa>aCa	p.I63T	IFI27_ENST00000298902.5_Missense_Mutation_p.I63T|IFI27_ENST00000557098.1_Missense_Mutation_p.I18T|IFI27_ENST00000448882.1_Missense_Mutation_p.I66T|IFI27_ENST00000444961.1_Missense_Mutation_p.I66T|IFI27_ENST00000557634.1_Missense_Mutation_p.I53T			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	63					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.I63T(1)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TCGTCCTCCATAGCAGCCAAG	0.632																																					GBM(128;797 1667 20895 29868 47129)	uc010tws.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)CAT>CAC		interferon, alpha-inducible protein 27 isoform							36.0	28.0	31.0					14																	94582193		2202	4299	6501	SO:0001583	missense	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94582193T>C	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.188T>C	14.37:g.94582193T>C	ENSP00000451956:p.Ile63Thr					IFI27_uc001ycn.1_RNA|IFI27_uc001yco.2_Missense_Mutation_p.I66T	p.H85H	NM_005532	NP_005523	P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	4	376	+			Error:Variant_position_missing_in_P40305_after_alignment					Q53YA6|Q6IEC1|Q96BK3	Silent	SNP	ENST00000555744.1	37	c.255T>C	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	T	9.861	1.196381	0.22037	.	.	ENSG00000165949	ENST00000444961;ENST00000448882;ENST00000557098;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	3.52	3.52	0.40303	.	1.979650	0.02708	N	0.112460	T	0.31888	0.0811	L	0.42245	1.32	0.09310	N	1	P	0.43287	0.802	B	0.40565	0.333	T	0.28586	-1.0039	10	0.54805	T	0.06	.	8.7192	0.34430	0.0:0.0:0.0:1.0	.	63	P40305	IFI27_HUMAN	T	66;66;18;63;63;53;63	ENSP00000413536:I66T;ENSP00000410901:I66T;ENSP00000450753:I18T;ENSP00000451875:I63T;ENSP00000298902:I63T;ENSP00000452560:I53T;ENSP00000451956:I63T	ENSP00000298902:I63T	I	+	2	0	IFI27	93651946	0.013000	0.17824	0.002000	0.10522	0.001000	0.01503	1.984000	0.40658	1.827000	0.53221	0.460000	0.39030	ATA		PASS	0.632	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532		5	4	5	4	---	---	---	---
IGHM	3507	broad.mit.edu	37	14	106321137	106321137	+	RNA	SNP	G	G	A	rs373090661		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr14:106321137G>A	ENST00000390559.2	-	0	851				AL122127.2_ENST00000581918.1_RNA|AL122127.5_ENST00000582202.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCTCACCCACGGCGCTGAAAG	0.602																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.		G		0,4164		0,0,2082	79.0	92.0	88.0			-2.0	0.0	14		88	1,8409		0,1,4204	no	intergenic				0,1,6286	AA,AG,GG		0.0119,0.0,0.0080			106321137	1,12573	2082	4205	6287			8755							g.chr14:106321137G>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321137G>A						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron								3600		-								P20769	RNA	SNP	ENST00000390559.2	37	c.56014C>T																																																																																					PASS	0.602	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		8	51	8	51	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28231737	28231737	+	Missense_Mutation	SNP	A	A	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr15:28231737A>T	ENST00000354638.3	-	12	1390	c.1235T>A	c.(1234-1236)gTa>gAa	p.V412E	OCA2_ENST00000353809.5_Missense_Mutation_p.V388E|OCA2_ENST00000382996.2_Missense_Mutation_p.V412E	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	412					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.V412E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACCTACCTTTACAGCACAATA	0.289									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1234-1236)GTA>GAA		oculocutaneous albinism II							98.0	103.0	101.0					15																	28231737		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28231737A>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1235T>A	15.37:g.28231737A>T	ENSP00000346659:p.Val412Glu					OCA2_uc010ayv.2_Missense_Mutation_p.V388E	p.V412E	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	12	1345	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	412			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1235T>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296241	0.81025	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90788	-2.73;-2.73;-2.73	5.57	5.57	0.84162	Divalent ion symporter (1);	0.063724	0.64402	D	0.000008	D	0.95701	0.8602	M	0.87900	2.915	0.47994	D	0.999561	D;D	0.89917	0.999;1.0	D;D	0.81914	0.988;0.995	D	0.96364	0.9268	10	0.87932	D	0	-10.2149	14.9196	0.70826	1.0:0.0:0.0:0.0	.	388;412	Q04671-2;Q04671	.;P_HUMAN	E	412;388;412	ENSP00000346659:V412E;ENSP00000261276:V388E;ENSP00000372457:V412E	ENSP00000261276:V388E	V	-	2	0	OCA2	25905332	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.972000	0.88022	2.114000	0.64651	0.455000	0.32223	GTA		PASS	0.289	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		35	164	35	164	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31325029	31325029	+	Missense_Mutation	SNP	G	G	A	rs370469506		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr15:31325029G>A	ENST00000256552.6	-	22	2962	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	TRPM1_ENST00000397795.2_Missense_Mutation_p.R917C|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R956C|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R917C(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTGTAGGCGAAGAATTGCT	0.478																																						uc001zfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2749-2751)CGC>TGC		transient receptor potential cation channel,		G	CYS/ARG	1,3931		0,1,1965	160.0	155.0	157.0		2749	5.6	1.0	15		157	0,8308		0,0,4154	no	missense	TRPM1	NM_002420.4	180	0,1,6119	AA,AG,GG		0.0,0.0254,0.0082	probably-damaging	917/1604	31325029	1,12239	1966	4154	6120	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31325029G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2815C>T	15.37:g.31325029G>A	ENSP00000256552:p.Arg939Cys					TRPM1_uc010azy.2_Missense_Mutation_p.R824C|TRPM1_uc001zfl.2_RNA	p.R917C	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	21	2877	-		all_lung(180;1.92e-11)	917			Helical; (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.2749C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394860	0.83011	2.54E-4	0.0	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.71698	-0.59;-0.59;-0.59	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.88213	0.6376	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90300	0.4329	10	0.87932	D	0	-24.4545	19.5857	0.95489	0.0:0.0:1.0:0.0	.	911;917	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	917;956;939;917	ENSP00000380897:R917C;ENSP00000437849:R956C;ENSP00000256552:R939C	ENSP00000256552:R939C	R	-	1	0	TRPM1	29112321	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.411000	0.66386	2.616000	0.88540	0.643000	0.83706	CGC		PASS	0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		45	116	45	116	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43818818	43818818	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr15:43818818G>A	ENST00000300231.5	+	4	5597	c.5147G>A	c.(5146-5148)gGg>gAg	p.G1716E	MAP1A_ENST00000399453.1_Missense_Mutation_p.G1716E|MAP1A_ENST00000382031.1_Missense_Mutation_p.G1954E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1716					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.G1716E(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATGGCCAGGGGGCCCGCCCA	0.602																																						uc001zrt.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5146-5148)GGG>GAG		microtubule-associated protein 1A	Estramustine(DB01196)						49.0	54.0	53.0					15																	43818818		1988	4149	6137	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818818G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5147G>A	15.37:g.43818818G>A	ENSP00000300231:p.Gly1716Glu						p.G1716E	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	5614	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1716					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5147G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238578	0.22711	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.08008	3.14;3.15;3.15	4.42	3.51	0.40186	.	.	.	.	.	T	0.09069	0.0224	L	0.36672	1.1	0.31491	N	0.665937	P	0.44816	0.844	P	0.44772	0.46	T	0.08554	-1.0716	9	0.38643	T	0.18	-14.3131	8.6098	0.33795	0.1764:0.0:0.8236:0.0	.	1716	P78559	MAP1A_HUMAN	E	1954;1716;1716	ENSP00000371462:G1954E;ENSP00000382380:G1716E;ENSP00000300231:G1716E	ENSP00000300231:G1716E	G	+	2	0	MAP1A	41606110	0.984000	0.35163	0.998000	0.56505	0.493000	0.33554	2.587000	0.46128	1.088000	0.41272	-0.251000	0.11542	GGG		PASS	0.602	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		36	34	36	34	---	---	---	---
TMOD3	29766	broad.mit.edu	37	15	52161438	52161438	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr15:52161438C>G	ENST00000308580.7	+	3	432	c.151C>G	c.(151-153)Cgg>Ggg	p.R51G	TMOD3_ENST00000544199.1_Missense_Mutation_p.R51G	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	51						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.R51G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TGCAGGGTTCCGGCAGAAGAA	0.448																																					Colon(122;1837 2251 18387 22826)	uc002abm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)CGG>GGG		tropomodulin 3 (ubiquitous)							70.0	70.0	70.0					15																	52161438		2195	4293	6488	SO:0001583	missense	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52161438C>G	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.151C>G	15.37:g.52161438C>G	ENSP00000308753:p.Arg51Gly						p.R51G	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	3	370	+			51					B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	c.151C>G	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139056	0.77775	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.53640	0.61;0.61	5.37	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	M	0.90595	3.13	0.80722	D	1	D	0.67145	0.996	D	0.67103	0.949	T	0.78979	-0.1990	10	0.72032	D	0.01	-11.0046	14.8455	0.70257	0.1444:0.8556:0.0:0.0	.	51	Q9NYL9	TMOD3_HUMAN	G	51	ENSP00000308753:R51G;ENSP00000438909:R51G	ENSP00000308753:R51G	R	+	1	2	TMOD3	49948730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.733000	0.62036	2.528000	0.85240	0.655000	0.94253	CGG		PASS	0.448	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			25	100	25	100	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081638	53081638	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr15:53081638G>T	ENST00000305901.5	-	1	571	c.444C>A	c.(442-444)agC>agA	p.S148R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	148					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S148R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGAGCGTGAAGCTACCGCTCA	0.647																																						uc002aci.1																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)AGC>AGA		one cut homeobox 1							52.0	58.0	56.0					15																	53081638		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081638G>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.444C>A	15.37:g.53081638G>T	ENSP00000302630:p.Ser148Arg						p.S148R	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	572	-			148					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.444C>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964485	0.53507	.	.	ENSG00000169856	ENST00000305901	T	0.56611	0.45	4.29	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	M	0.82630	2.6	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.72953	-0.4135	10	0.72032	D	0.01	-21.2212	10.0966	0.42480	0.1023:0.0:0.8977:0.0	.	148	Q9UBC0	HNF6_HUMAN	R	148	ENSP00000302630:S148R	ENSP00000302630:S148R	S	-	3	2	ONECUT1	50868930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.781000	0.62389	0.986000	0.38683	0.505000	0.49811	AGC		PASS	0.647	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			9	84	9	84	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63111814	63111814	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr15:63111814A>G	ENST00000561311.1	+	52	7101	c.6871A>G	c.(6871-6873)Atg>Gtg	p.M2291V	TLN2_ENST00000306829.6_Missense_Mutation_p.M2291V			Q9Y4G6	TLN2_HUMAN	talin 2	2291					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.M2291V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGCGGAAGCCATGAAAGGTAG	0.572																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(6871-6873)ATG>GTG		talin 2							39.0	40.0	40.0					15																	63111814		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63111814A>G	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6871A>G	15.37:g.63111814A>G	ENSP00000453508:p.Met2291Val					TLN2_uc002alc.3_Missense_Mutation_p.M684V|TLN2_uc010uic.1_5'Flank	p.M2291V	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			50	6871	+			2291					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.6871A>G	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417660	0.42918	.	.	ENSG00000171914	ENST00000306829	T	0.68331	-0.32	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.78916	2.43	0.58432	D	0.999999	B	0.29270	0.24	B	0.25140	0.058	T	0.70260	-0.4921	10	0.62326	D	0.03	-30.6053	15.4111	0.74923	1.0:0.0:0.0:0.0	.	2291	Q9Y4G6	TLN2_HUMAN	V	2291	ENSP00000303476:M2291V	ENSP00000303476:M2291V	M	+	1	0	TLN2	60898867	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	9.220000	0.95180	2.043000	0.60533	0.459000	0.35465	ATG		PASS	0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			37	20	37	20	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70351076	70351076	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr15:70351076C>G	ENST00000558939.1	-	11	2221	c.844G>C	c.(844-846)Gat>Cat	p.D282H	TLE3_ENST00000442299.2_Missense_Mutation_p.D282H|TLE3_ENST00000558201.1_Missense_Mutation_p.D288H|TLE3_ENST00000559929.1_Missense_Mutation_p.D292H|TLE3_ENST00000440567.3_Missense_Mutation_p.D275H|TLE3_ENST00000539550.1_Missense_Mutation_p.D226H|TLE3_ENST00000558379.1_Missense_Mutation_p.D282H|TLE3_ENST00000557997.1_Missense_Mutation_p.D282H|TLE3_ENST00000557907.1_Missense_Mutation_p.D282H|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Missense_Mutation_p.D287H|TLE3_ENST00000560939.1_Missense_Mutation_p.D287H|TLE3_ENST00000560589.1_Missense_Mutation_p.D226H|TLE3_ENST00000317509.8_Missense_Mutation_p.D282H|TLE3_ENST00000451782.2_Missense_Mutation_p.D282H	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	282	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D282H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTGGGGGCATCTTTTTTCAGG	0.597																																						uc002asm.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(844-846)GAT>CAT		transducin-like enhancer protein 3 isoform a							27.0	31.0	30.0					15																	70351076		1927	4126	6053	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70351076C>G	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.844G>C	15.37:g.70351076C>G	ENSP00000452871:p.Asp282His					TLE3_uc002ask.2_Missense_Mutation_p.D226H|TLE3_uc002asl.2_Missense_Mutation_p.D287H|TLE3_uc010ukd.1_Missense_Mutation_p.D275H|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.D282H|TLE3_uc002asn.2_Missense_Mutation_p.D282H|TLE3_uc002asp.2_Missense_Mutation_p.D282H|TLE3_uc002aso.2_Missense_Mutation_p.D282H	p.D282H	NM_005078	NP_005069	Q04726	TLE3_HUMAN			11	1963	-			282			Pro/Ser-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.844G>C	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791162	0.50102	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.53640	0.84;0.88;0.9;0.9;0.61	5.44	5.44	0.79542	.	0.055870	0.64402	D	0.000001	T	0.63462	0.2513	L	0.58101	1.795	0.80722	D	1	P;B;B;B;B;B;P;B	0.51537	0.886;0.085;0.065;0.009;0.007;0.001;0.946;0.02	P;B;B;B;B;B;P;B	0.58660	0.707;0.036;0.033;0.009;0.029;0.009;0.843;0.047	T	0.61941	-0.6959	10	0.52906	T	0.07	-3.6619	19.4628	0.94924	0.0:1.0:0.0:0.0	.	275;282;282;282;282;282;287;226	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	H	282;282;282;275;226	ENSP00000390007:D282H;ENSP00000394717:D282H;ENSP00000319233:D282H;ENSP00000415057:D275H;ENSP00000442594:D226H	ENSP00000319233:D282H	D	-	1	0	TLE3	68138130	0.998000	0.40836	0.946000	0.38457	0.251000	0.25915	7.559000	0.82265	2.837000	0.97791	0.655000	0.94253	GAT		PASS	0.597	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		7	17	7	17	---	---	---	---
ZNF774	342132	broad.mit.edu	37	15	90897929	90897929	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr15:90897929G>A	ENST00000354377.3	+	2	223	c.37G>A	c.(37-39)Gga>Aga	p.G13R	ZNF774_ENST00000379090.5_Missense_Mutation_p.G13R|ZNF774_ENST00000558115.1_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	13	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G13R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGGGTTACCTGGACACTGCTT	0.453																																						uc002bpk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GGA>AGA		zinc finger protein 774							98.0	89.0	92.0					15																	90897929		2199	4298	6497	SO:0001583	missense	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90897929G>A	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.37G>A	15.37:g.90897929G>A	ENSP00000346348:p.Gly13Arg						p.G13R	NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		2	223	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		13			KRAB.		A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	c.37G>A	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979164	0.74360	.	.	ENSG00000196391	ENST00000354377;ENST00000379090	T;T	0.66099	3.15;-0.19	4.16	4.16	0.48862	.	0.251340	0.20614	N	0.088920	T	0.63581	0.2523	N	0.22421	0.69	0.31915	N	0.614153	D	0.69078	0.997	P	0.62813	0.907	T	0.69921	-0.5014	10	0.87932	D	0	.	11.8123	0.52189	0.0:0.0:1.0:0.0	.	13	Q6NX45	ZN774_HUMAN	R	13	ENSP00000346348:G13R;ENSP00000368383:G13R	ENSP00000346348:G13R	G	+	1	0	ZNF774	88698933	0.994000	0.37717	0.967000	0.41034	0.980000	0.70556	1.981000	0.40628	2.154000	0.67381	0.460000	0.39030	GGA		PASS	0.453	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		8	27	8	27	---	---	---	---
MAPK8IP3	23162	broad.mit.edu	37	16	1816271	1816271	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr16:1816271G>A	ENST00000250894.4	+	22	2834	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E887K	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	893					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.E893K(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAGTCCACAGAGGAGGCCAC	0.647																																						uc002cmk.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.(2677-2679)GAG>AAG		mitogen-activated protein kinase 8 interacting							37.0	49.0	45.0					16																	1816271		2103	4240	6343	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1816271G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2677G>A	16.37:g.1816271G>A	ENSP00000250894:p.Glu893Lys					MAPK8IP3_uc002cml.2_Missense_Mutation_p.E887K|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E894K	p.E893K	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			22	2797	+			893					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2677G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	35	5.416904	0.96092	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.38077	1.16;1.16	5.09	5.09	0.68999	.	0.107967	0.64402	D	0.000007	T	0.61578	0.2358	M	0.77313	2.365	0.80722	D	1	B;P;D	0.69078	0.434;0.897;0.997	B;P;D	0.78314	0.325;0.684;0.991	T	0.60388	-0.7273	10	0.32370	T	0.25	-29.0308	18.0927	0.89479	0.0:0.0:1.0:0.0	.	894;887;893	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	K	893;887	ENSP00000250894:E893K;ENSP00000348290:E887K	ENSP00000250894:E893K	E	+	1	0	MAPK8IP3	1756272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.478000	0.97927	2.387000	0.81309	0.561000	0.74099	GAG		PASS	0.647	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		11	37	11	37	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2126131	2126131	+	Missense_Mutation	SNP	G	G	A	rs397515098		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr16:2126131G>A	ENST00000219476.3	+	24	3332	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	TSC2_ENST00000439673.2_Missense_Mutation_p.R864H|TSC2_ENST00000350773.4_Missense_Mutation_p.R901H|TSC2_ENST00000401874.2_Missense_Mutation_p.R901H|TSC2_ENST00000382538.6_Missense_Mutation_p.R852H|TSC2_ENST00000568454.1_Missense_Mutation_p.R912H|TSC2_ENST00000353929.4_Missense_Mutation_p.R901H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	901					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.R901H(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAGGTGCCGCCTGCCCTTC	0.572			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(2701-2703)CGC>CAC		tuberous sclerosis 2 isoform 1							125.0	100.0	108.0					16																	2126131		2198	4300	6498	SO:0001583	missense	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2126131G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2702G>A	16.37:g.2126131G>A	ENSP00000219476:p.Arg901His					TSC2_uc010bsd.2_Missense_Mutation_p.R901H|TSC2_uc002coo.2_Missense_Mutation_p.R901H|TSC2_uc010uvv.1_Missense_Mutation_p.R864H|TSC2_uc010uvw.1_Missense_Mutation_p.R852H|TSC2_uc002cop.2_Missense_Mutation_p.R701H	p.R901H	NM_000548	NP_000539	P49815	TSC2_HUMAN			24	2808	+		Hepatocellular(780;0.0202)	901					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2702G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395721	0.96009	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.09	5.09	0.68999	Tuberin-type domain (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.989;0.999;0.998;0.996	D	0.94853	0.8015	10	0.72032	D	0.01	-29.9173	18.5131	0.90925	0.0:0.0:1.0:0.0	.	852;864;901;901;901;901	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	H	901;901;901;864;852;901	ENSP00000219476:R901H;ENSP00000384468:R901H;ENSP00000248099:R901H;ENSP00000399232:R864H;ENSP00000371978:R852H;ENSP00000344383:R901H	ENSP00000219476:R901H	R	+	2	0	TSC2	2066132	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.787000	0.99055	2.367000	0.80283	0.561000	0.74099	CGC		PASS	0.572	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		20	59	20	59	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2158510	2158510	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr16:2158510G>A	ENST00000262304.4	-	15	6866	c.6658C>T	c.(6658-6660)Cgg>Tgg	p.R2220W	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.R2220W	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2220	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1). {ECO:0000269|PubMed:11115377}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R2220W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCGCCAGCCGCGGCAGCACC	0.697																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(6658-6660)CGG>TGG		polycystin 1 isoform 1 precursor																																				SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158510G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6658C>T	16.37:g.2158510G>A	ENSP00000262304:p.Arg2220Trp					PKD1_uc002cot.1_Missense_Mutation_p.R2220W	p.R2220W	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	6867	-			2220		Missing (in ADPKD1).	Extracellular (Potential).|REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.6658C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	16.50	3.139808	0.56936	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.70986	-0.53;-0.53	5.49	5.49	0.81192	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.057779	0.64402	D	0.000002	T	0.80549	0.4644	L	0.60455	1.87	0.34183	D	0.67111	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.86157	0.1591	10	0.87932	D	0	.	12.5526	0.56236	0.0:0.0:0.7207:0.2793	.	2220;2220	P98161-3;P98161	.;PKD1_HUMAN	W	2220;2220;1571;499	ENSP00000262304:R2220W;ENSP00000399501:R2220W	ENSP00000262304:R2220W	R	-	1	2	PKD1	2098511	1.000000	0.71417	0.870000	0.34147	0.541000	0.35023	6.587000	0.74071	2.597000	0.87782	0.544000	0.68410	CGG		PASS	0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			14	8	14	8	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3823774	3823774	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr16:3823774G>A	ENST00000262367.5	-	13	3250	c.2441C>T	c.(2440-2442)cCa>cTa	p.P814L	CREBBP_ENST00000382070.3_Missense_Mutation_p.P776L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	814					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P814L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGTTTGGGCTGGCGGCTGCCC	0.547			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2440-2442)CCA>CTA		CREB binding protein isoform a							31.0	34.0	33.0					16																	3823774		2194	4296	6490	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3823774G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2441C>T	16.37:g.3823774G>A	ENSP00000262367:p.Pro814Leu					CREBBP_uc002cvw.2_Missense_Mutation_p.P776L	p.P814L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	13	2645	-		Ovarian(90;0.0266)	814					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2441C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307259	0.23821	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83163	-1.69;-1.61	5.33	4.35	0.52113	.	0.450705	0.22784	N	0.055681	T	0.72503	0.3468	N	0.14661	0.345	0.09310	N	1	B;B	0.34290	0.447;0.442	B;B	0.38954	0.286;0.091	T	0.62115	-0.6922	10	0.24483	T	0.36	-1.1062	13.8187	0.63308	0.0:0.2925:0.7075:0.0	.	844;814	Q4LE28;Q92793	.;CBP_HUMAN	L	814;844;776	ENSP00000262367:P814L;ENSP00000371502:P776L	ENSP00000262367:P814L	P	-	2	0	CREBBP	3763775	0.374000	0.25081	0.002000	0.10522	0.013000	0.08279	3.457000	0.53007	1.353000	0.45828	0.563000	0.77884	CCA		PASS	0.547	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		57	25	57	25	---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23702239	23702239	+	IGR	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr16:23702239C>G	ENST00000300093.4	+	0	2227				CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.R946S|ERN2_ENST00000457008.2_Missense_Mutation_p.R846S	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R946S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AGGCGCAGCTCCTCATGGCTC	0.642																																					Colon(12;240 564 27038 33155)	uc002dma.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.(2836-2838)AGG>AGC		endoplasmic reticulum to nucleus signalling 2							52.0	53.0	53.0					16																	23702239		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702239C>G		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702239C>G						ERN2_uc010bxp.2_Missense_Mutation_p.R894S	p.R946S	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	22	3007	-			898			KEN.|Cytoplasmic (Potential).		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2838G>C	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	3.424	-0.117499	0.06838	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.28454	1.61;1.61	5.22	0.756	0.18421	.	0.229172	0.44483	D	0.000455	T	0.15739	0.0379	N	0.17800	0.525	0.28697	N	0.904286	B;B	0.22746	0.022;0.074	B;B	0.27380	0.018;0.079	T	0.27123	-1.0083	10	0.13470	T	0.59	.	7.1781	0.25757	0.0:0.5792:0.2615:0.1592	.	846;898	E7ETG2;A5YM65	.;.	S	946;846	ENSP00000256797:R946S;ENSP00000413812:R846S	ENSP00000256797:R946S	R	-	3	2	ERN2	23609740	0.002000	0.14202	1.000000	0.80357	0.108000	0.19459	0.154000	0.16343	0.291000	0.22468	0.561000	0.74099	AGG		PASS	0.642	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		10	37	10	37	---	---	---	---
MYLK3	91807	broad.mit.edu	37	16	46766205	46766205	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr16:46766205C>G	ENST00000394809.4	-	4	1492	c.1377G>C	c.(1375-1377)gaG>gaC	p.E459D	MYLK3_ENST00000536476.1_Missense_Mutation_p.E118D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	459					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.E538D(1)|p.E459D(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CACAGTCCTGCTCAGGCTCAG	0.652																																						uc002eei.3																			2	Substitution - Missense(2)		lung(2)	stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1375-1377)GAG>GAC		myosin light chain kinase 3							39.0	44.0	42.0					16																	46766205		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46766205C>G	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1377G>C	16.37:g.46766205C>G	ENSP00000378288:p.Glu459Asp					MYLK3_uc010vge.1_Missense_Mutation_p.E118D|MYLK3_uc002eej.1_Missense_Mutation_p.E118D	p.E459D	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			4	1493	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	459					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1377G>C	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	6.896	0.534874	0.13188	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.68765	-0.35;-0.33	5.17	0.268	0.15626	.	1.237260	0.06100	N	0.665280	T	0.44371	0.1290	N	0.14661	0.345	0.09310	N	1	B;B	0.21520	0.057;0.026	B;B	0.15052	0.012;0.012	T	0.21211	-1.0252	10	0.15952	T	0.53	.	5.4708	0.16668	0.0:0.564:0.1506:0.2854	.	459;459	B5BUL9;Q32MK0	.;MYLK3_HUMAN	D	459;118	ENSP00000378288:E459D;ENSP00000439297:E118D	ENSP00000378288:E459D	E	-	3	2	MYLK3	45323706	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.037000	0.12164	0.172000	0.19760	0.561000	0.74099	GAG		PASS	0.652	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		16	49	16	49	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55519555	55519555	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr16:55519555G>T	ENST00000219070.4	+	5	1207	c.698G>T	c.(697-699)tGc>tTc	p.C233F	MMP2_ENST00000437642.2_Missense_Mutation_p.C183F|MMP2_ENST00000570308.1_Missense_Mutation_p.C157F|MMP2_ENST00000543485.1_Missense_Mutation_p.C157F	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	233	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.C233F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GGGGAGTACTGCAAGTTCCCC	0.537																																						uc002ehz.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(697-699)TGC>TTC		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						146.0	124.0	131.0					16																	55519555		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55519555G>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.698G>T	16.37:g.55519555G>T	ENSP00000219070:p.Cys233Phe					MMP2_uc010vhd.1_Missense_Mutation_p.C157F|MMP2_uc010ccc.2_Missense_Mutation_p.C183F	p.C233F	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	5	1009	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	233			Fibronectin type-II 1.|Collagen-binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.698G>T	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633111	0.87660	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	D;D;D	0.91996	-2.95;-2.95;-2.95	4.66	4.66	0.58398	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.99170	1.0864	10	0.62326	D	0.03	.	17.6151	0.88065	0.0:0.0:1.0:0.0	.	183;233	E9PE45;P08253	.;MMP2_HUMAN	F	233;157;183	ENSP00000219070:C233F;ENSP00000444143:C157F;ENSP00000394237:C183F	ENSP00000219070:C233F	C	+	2	0	MMP2	54077056	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.856000	0.99531	2.164000	0.68074	0.436000	0.28706	TGC		PASS	0.537	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			43	100	43	100	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76461469	76461469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr16:76461469C>T	ENST00000476707.1	+	3	659	c.520C>T	c.(520-522)Cga>Tga	p.R174*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.R170*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.R146*|CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.R170*			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	171	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.R146*(2)|p.R170*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTGGAATGCGAATCGAAGT	0.408																																						uc002feu.1																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(511-513)CGA>TGA		cell recognition protein CASPR4 isoform 1							113.0	107.0	109.0					16																	76461469		2198	4300	6498	SO:0001587	stop_gained	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76461469C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.520C>T	16.37:g.76461469C>T	ENSP00000417628:p.Arg174*					CNTNAP4_uc002fev.1_Nonsense_Mutation_p.R83*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.R146*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.R174*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.R146*	p.R171*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			6	896	+			171			Extracellular (Potential).|F5/8 type C.		E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37	c.511C>T		.	.	.	.	.	.	.	.	.	.	C	27.1	4.801531	0.90538	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	4.98	4.02	0.46733	.	0.000000	0.34725	N	0.003734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6783	0.56908	0.3001:0.6999:0.0:0.0	.	.	.	.	X	170;170;146;174	.	ENSP00000306893:R170X	R	+	1	2	CNTNAP4	75018970	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	0.764000	0.26532	1.464000	0.47987	0.655000	0.94253	CGA		PASS	0.408	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		14	39	14	39	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3680912	3680912	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:3680912G>T	ENST00000263087.4	-	2	175	c.77C>A	c.(76-78)cCc>cAc	p.P26H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	26					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.P26H(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CGTGAGCCAGGGCCGGGCCAC	0.602																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|breast(1)|pancreas(1)	4						c.(76-78)CCC>CAC		integrin, alpha E precursor							62.0	61.0	61.0					17																	3680912		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3680912G>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.77C>A	17.37:g.3680912G>T	ENSP00000263087:p.Pro26His						p.P26H	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	2	176	-			26			FG-GAP 1.|Extracellular (Potential).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.77C>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927093	0.34002	.	.	ENSG00000083457	ENST00000263087	D	0.93076	-3.16	4.37	2.39	0.29439	.	.	.	.	.	D	0.85440	0.5697	N	0.22421	0.69	0.20563	N	0.999886	P	0.48640	0.913	B	0.37780	0.258	T	0.77672	-0.2500	9	0.66056	D	0.02	.	6.9745	0.24666	0.2042:0.0:0.7958:0.0	.	26	P38570	ITAE_HUMAN	H	26	ENSP00000263087:P26H	ENSP00000263087:P26H	P	-	2	0	ITGAE	3627661	0.368000	0.25031	0.671000	0.29857	0.022000	0.10575	0.495000	0.22483	0.796000	0.33947	0.609000	0.83330	CCC		PASS	0.602	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		18	65	18	65	---	---	---	---
SLC52A1	55065	broad.mit.edu	37	17	4936615	4936615	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:4936615G>T	ENST00000424747.1	-	4	1787	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	SLC52A1_ENST00000254853.5_Missense_Mutation_p.L359M|SLC52A1_ENST00000512825.2_Intron	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	359					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.L359M(1)									AGGATTGCCAGTGCCATCAGG	0.627																																						uc002gap.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1075-1077)CTG>ATG		G protein-coupled receptor 172B precursor							91.0	105.0	100.0					17																	4936615		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936615G>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1075C>A	17.37:g.4936615G>T	ENSP00000399979:p.Leu359Met					GPR172B_uc002gao.3_Missense_Mutation_p.L359M|GPR172B_uc010ckw.2_Missense_Mutation_p.L237M|GPR172B_uc010ckx.2_Intron	p.L359M	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN			4	1788	-			359			Helical; (Potential).		B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.1075C>A	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	G	5.351	0.250017	0.10130	.	.	ENSG00000132517	ENST00000254853;ENST00000424747	T;T	0.73575	-0.76;-0.76	0.913	0.913	0.19354	.	0.000000	0.64402	D	0.000004	T	0.71256	0.3318	L	0.41632	1.29	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	T	0.69281	-0.5186	10	0.09590	T	0.72	.	3.1679	0.06542	0.298:0.0:0.702:0.0	.	359	Q9NWF4	RFT_HUMAN	M	359	ENSP00000254853:L359M;ENSP00000399979:L359M	ENSP00000254853:L359M	L	-	1	2	GPR172B	4877339	0.000000	0.05858	0.542000	0.28115	0.538000	0.34931	-0.937000	0.03942	0.784000	0.33661	0.655000	0.94253	CTG		PASS	0.627	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		37	74	37	74	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7227500	7227500	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:7227500G>C	ENST00000399464.2	-	11	2004	c.1989C>G	c.(1987-1989)aaC>aaG	p.N663K	NEURL4_ENST00000315614.7_Missense_Mutation_p.N663K|NEURL4_ENST00000570460.1_Missense_Mutation_p.N641K	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	663	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.N663K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGGGGGCACGTTCCAGGCAG	0.667											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gga.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1987-1989)AAC>AAG		neuralized homolog 4 isoform 1							70.0	81.0	78.0					17																	7227500		2091	4232	6323	SO:0001583	missense	84461						protein binding	g.chr17:7227500G>C		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1989C>G	17.37:g.7227500G>C	ENSP00000382390:p.Asn663Lys		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_uc002ggb.1_Missense_Mutation_p.N663K|NEURL4_uc002ggc.1_Missense_Mutation_p.N9K	p.N663K	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			11	1996	-			663			NHR 3.		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1989C>G	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653066	0.47362	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74209	-0.82;-0.82	5.03	-1.24	0.09435	Concanavalin A-like lectin/glucanase (1);NEUZ (1);	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.61703	1.905	0.38643	D	0.951663	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.989	T	0.79978	-0.1575	10	0.72032	D	0.01	-18.4157	11.344	0.49550	0.4792:0.0:0.5208:0.0	.	663;663	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	K	663	ENSP00000319826:N663K;ENSP00000382390:N663K	ENSP00000319826:N663K	N	-	3	2	NEURL4	7168224	0.367000	0.25023	0.989000	0.46669	0.528000	0.34623	-0.297000	0.08276	-0.446000	0.07149	-0.302000	0.09304	AAC		PASS	0.667	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		6	123	6	123	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578416	7578416	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:7578416C>A	ENST00000269305.4	-	5	703	c.514G>T	c.(514-516)Gtt>Ttt	p.V172F	TP53_ENST00000420246.2_Missense_Mutation_p.V172F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V172F|TP53_ENST00000413465.2_Missense_Mutation_p.V172F|TP53_ENST00000445888.2_Missense_Mutation_p.V172F|TP53_ENST00000455263.2_Missense_Mutation_p.V172F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	172	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V172F(14)|p.0?(8)|p.V172I(7)|p.E171fs*2(3)|p.V172fs*2(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.V40F(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.V79F(1)|p.E171_V172delEV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCCTCACAACCTCCGTCATG	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		54	Substitution - Missense(23)|Deletion - Frameshift(16)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(1)	p.V172F(10)|p.V172D(8)|p.V172I(7)|p.0?(7)|p.V172V(4)|p.V172A(4)|p.V172fs*2(3)|p.V172G(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171_V172delEV(1)	large_intestine(11)|breast(10)|lung(6)|oesophagus(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|liver(3)|stomach(2)|urinary_tract(2)|ovary(2)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(514-516)GTT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	52.0	52.0					17																	7578416		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578416C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.514G>T	17.37:g.7578416C>A	ENSP00000269305:p.Val172Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V172F|TP53_uc002gih.2_Missense_Mutation_p.V172F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V40F|TP53_uc010cng.1_Missense_Mutation_p.V40F|TP53_uc002gii.1_Missense_Mutation_p.V40F|TP53_uc010cnh.1_Missense_Mutation_p.V172F|TP53_uc010cni.1_Missense_Mutation_p.V172F|TP53_uc002gij.2_Missense_Mutation_p.V172F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V79F|TP53_uc002gio.2_Missense_Mutation_p.V40F|TP53_uc010vug.1_Missense_Mutation_p.V133F	p.V172F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	708	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	172		V -> A (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.514G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183082	0.78677	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.063062	0.64402	D	0.000008	D	0.99854	0.9932	M	0.88310	2.945	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.961;1.0;0.999;1.0;1.0	D	0.96581	0.9430	10	0.87932	D	0	-20.1368	12.5365	0.56144	0.0:0.9188:0.0:0.0812	.	133;172;172;79;172;172;172	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	172;172;172;172;172;172;161;79;40;79;40	ENSP00000410739:V172F;ENSP00000352610:V172F;ENSP00000269305:V172F;ENSP00000398846:V172F;ENSP00000391127:V172F;ENSP00000391478:V172F;ENSP00000425104:V40F;ENSP00000423862:V79F	ENSP00000269305:V172F	V	-	1	0	TP53	7519141	1.000000	0.71417	0.713000	0.30519	0.434000	0.31775	4.932000	0.63476	1.503000	0.48686	0.655000	0.94253	GTT		PASS	0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	36	33	36	---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18638551	18638551	+	Silent	SNP	T	T	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:18638551T>C	ENST00000449552.2	+	7	2309	c.825T>C	c.(823-825)ccT>ccC	p.P275P	TRIM16L_ENST00000572555.1_Silent_p.P275P|TRIM16L_ENST00000571708.1_Silent_p.P275P|TRIM16L_ENST00000395671.4_Silent_p.P275P|TRIM16L_ENST00000395902.3_Silent_p.P329P|TRIM16L_ENST00000395672.2_Silent_p.P275P|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	275	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)		p.P275P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AAGCTGGCCCTTTCTGGAGGC	0.522																																						uc002gug.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)CCT>CCC		tripartite motif-containing 16-like							76.0	77.0	77.0					17																	18638551		2203	4300	6503	SO:0001819	synonymous_variant	147166					cytoplasm		g.chr17:18638551T>C	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.825T>C	17.37:g.18638551T>C						TRIM16L_uc010vyf.1_Silent_p.P329P|TRIM16L_uc002guh.1_Silent_p.P275P|TRIM16L_uc010cqg.1_Silent_p.P377P|TRIM16L_uc002gui.1_Silent_p.P275P|TRIM16L_uc010vyg.1_Silent_p.P275P|TRIM16L_uc010vyh.1_3'UTR	p.P275P	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN			10	1512	+			275			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	37	c.825T>C	CCDS32588.1																																																																																				PASS	0.522	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		17	84	17	84	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27958769	27958769	+	Missense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:27958769G>T	ENST00000269033.3	-	15	3513	c.3362C>A	c.(3361-3363)aCa>aAa	p.T1121K	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.T1148K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1121					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T1121K(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAAATGGGTTGTATGACTGAC	0.542																																						uc002heo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3361-3363)ACA>AAA		slingshot 2							110.0	106.0	107.0					17																	27958769		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958769G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3362C>A	17.37:g.27958769G>T	ENSP00000269033:p.Thr1121Lys					SSH2_uc010wbh.1_Missense_Mutation_p.T1148K	p.T1121K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	3362	-			1121					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3362C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	4.159	0.028041	0.08054	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.08634	3.07;3.07	5.81	3.79	0.43588	.	1.466230	0.03621	N	0.236354	T	0.09379	0.0231	L	0.51422	1.61	0.09310	N	0.999992	P;B	0.35272	0.493;0.22	B;B	0.27380	0.079;0.036	T	0.29366	-1.0014	10	0.48119	T	0.1	-2.9842	5.2649	0.15593	0.1666:0.1872:0.6462:0.0	.	1148;1121	F5H527;Q76I76	.;SSH2_HUMAN	K	1121;1148	ENSP00000269033:T1121K;ENSP00000444743:T1148K	ENSP00000269033:T1121K	T	-	2	0	SSH2	24982895	0.003000	0.15002	0.425000	0.26659	0.006000	0.05464	1.468000	0.35332	1.423000	0.47198	0.655000	0.94253	ACA		PASS	0.542	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		25	72	25	72	---	---	---	---
CPD	1362	broad.mit.edu	37	17	28750565	28750565	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:28750565G>C	ENST00000225719.4	+	6	1775	c.1699G>C	c.(1699-1701)Gaa>Caa	p.E567Q	CPD_ENST00000543464.2_Missense_Mutation_p.E320Q	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	567	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.E567Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCATGGAAATGAAGTGGTTGG	0.358																																						uc002hfb.1																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(1699-1701)GAA>CAA		carboxypeptidase D precursor							128.0	124.0	125.0					17																	28750565		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28750565G>C	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1699G>C	17.37:g.28750565G>C	ENSP00000225719:p.Glu567Gln					CPD_uc010wbo.1_Missense_Mutation_p.E320Q|CPD_uc010wbp.1_RNA	p.E567Q	NM_001304	NP_001295	O75976	CBPD_HUMAN			6	1714	+			567			Extracellular (Potential).|Carboxypeptidase-like 2.	Zinc 2 (By similarity).	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1699G>C	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878840	0.91740	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.55234	0.53;0.53	5.62	5.62	0.85841	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88992	0.3415	10	0.87932	D	0	.	18.6634	0.91479	0.0:0.0:1.0:0.0	.	320;567	F5GZH6;O75976	.;CBPD_HUMAN	Q	567;320	ENSP00000225719:E567Q;ENSP00000444443:E320Q	ENSP00000225719:E567Q	E	+	1	0	CPD	25774691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.648000	0.89879	0.563000	0.77884	GAA		PASS	0.358	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		35	26	35	26	---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37228713	37228713	+	Silent	SNP	T	T	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:37228713T>G	ENST00000315392.4	-	12	1423	c.1212A>C	c.(1210-1212)gcA>gcC	p.A404A	PLXDC1_ENST00000444911.2_Silent_p.A364A|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	404					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.A404A(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGTCTCCTCCTGCATAGGGAT	0.527																																						uc002hrg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(1210-1212)GCA>GCC		plexin domain containing 1 precursor							56.0	43.0	48.0					17																	37228713		2197	4277	6474	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37228713T>G	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1212A>C	17.37:g.37228713T>G						uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Intron|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.A404A	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			12	1424	-			404			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.1212A>C	CCDS11333.1																																																																																				PASS	0.527	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		5	8	5	8	---	---	---	---
PGAP3	93210	broad.mit.edu	37	17	37842247	37842247	+	Silent	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:37842247C>T	ENST00000300658.4	-	2	299	c.207G>A	c.(205-207)aaG>aaA	p.K69K	PGAP3_ENST00000429199.2_Silent_p.K69K|ERBB2_ENST00000406381.2_5'Flank|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000579146.1_Silent_p.K69K|PGAP3_ENST00000378011.4_Silent_p.K69K|ERBB2_ENST00000584601.1_5'Flank	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	69					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)	p.K69K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TACACTCATACTTACAGTCGT	0.542																																						uc002hsj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(205-207)AAG>AAA		per1-like domain containing 1 precursor							132.0	89.0	103.0					17																	37842247		2203	4300	6503	SO:0001819	synonymous_variant	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37842247C>T	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.207G>A	17.37:g.37842247C>T						ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Silent_p.K69K|PGAP3_uc002hsk.2_Silent_p.K69K|PGAP3_uc010cvz.2_Silent_p.K69K|ERBB2_uc002hsl.2_5'Flank	p.K69K	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN			2	250	-			69			Lumenal (Potential).		B4DGK7|Q86Z03|Q8NBJ8	Silent	SNP	ENST00000300658.4	37	c.207G>A	CCDS32641.1																																																																																				PASS	0.542	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		13	63	13	63	---	---	---	---
KRT32	3882	broad.mit.edu	37	17	39619203	39619203	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:39619203C>T	ENST00000225899.3	-	6	1199	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	366	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A366T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CGGATCTCAGCCAGCTGGGCC	0.647																																						uc002hwr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)GCT>ACT		keratin 32							75.0	74.0	74.0					17																	39619203		2203	4300	6503	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39619203C>T	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1096G>A	17.37:g.39619203C>T	ENSP00000225899:p.Ala366Thr						p.A366T	NM_002278	NP_002269	Q14532	K1H2_HUMAN			6	1157	-		Breast(137;0.000812)	366			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225899.3	37	c.1096G>A	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255912	0.59321	.	.	ENSG00000108759	ENST00000225899	D	0.88896	-2.44	4.98	3.99	0.46301	Filament (1);	0.206207	0.23966	N	0.042819	D	0.92593	0.7647	M	0.76938	2.355	0.27309	N	0.957369	P	0.34522	0.455	P	0.49477	0.612	D	0.88148	0.2849	10	0.62326	D	0.03	.	14.2966	0.66318	0.1492:0.8508:0.0:0.0	.	366	Q14532	K1H2_HUMAN	T	366	ENSP00000225899:A366T	ENSP00000225899:A366T	A	-	1	0	KRT32	36872729	0.986000	0.35501	0.918000	0.36340	0.215000	0.24574	2.649000	0.46656	1.179000	0.42884	0.491000	0.48974	GCT		PASS	0.647	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		15	163	15	163	---	---	---	---
GFAP	2670	broad.mit.edu	37	17	42992539	42992540	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:42992539_42992540CC>AG	ENST00000253408.5	-	1	380_381	c.315_316GG>CT	c.(313-318)cgGGcc>cgCTcc	p.A106S	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.A106S|GFAP_ENST00000586793.1_Missense_Mutation_p.A106S|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	106	Linker 1.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.A106S(4)|p.R105R(2)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GGCTCCTTGGCCCGCAGCTGGT	0.614																																						uc002ihq.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|pancreas(1)	2						c.(316-318)GCC>TCC|c.(313-315)CGG>CGC		glial fibrillary acidic protein isoform 1																																				SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992539C>A|g.chr17:42992540C>G	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.315_316delinsAG	17.37:g.42992539_42992540delinsAG	ENSP00000253408:p.Ala106Ser					GFAP_uc002ihr.2_Missense_Mutation_p.A106S|GFAP_uc010wjg.1_RNA|GFAP_uc002ihr.2_Silent_p.R105R|GFAP_uc010wjg.1_RNA	p.A106S|p.R105R	NM_002055	NP_002046	P14136	GFAP_HUMAN			1	376|375	-		Prostate(33;0.0959)	106|105			Linker 1.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation|Silent	SNP	ENST00000253408.5	37	c.316G>T|c.315G>C	CCDS11491.1																																																																																				PASS	0.614	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		20	134|136	20	134	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51902198	51902198	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:51902198C>T	ENST00000268919.4	+	1	1960	c.1804C>T	c.(1804-1806)Ccc>Tcc	p.P602S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	602					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P602S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAAACATTACCCACTCTGTT	0.423																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1804-1806)CCC>TCC		kinesin family member 2B							161.0	152.0	155.0					17																	51902198		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902198C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1804C>T	17.37:g.51902198C>T	ENSP00000268919:p.Pro602Ser					uc010wna.1_RNA	p.P602S	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1960	+			602					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1804C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.870922	0.00062	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.72167	-0.63	5.14	-7.98	0.01135	.	6.653280	0.00357	N	0.000026	T	0.43612	0.1255	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	10	0.21540	T	0.41	.	4.9708	0.14115	0.0976:0.1842:0.4985:0.2197	.	602	Q8N4N8	KIF2B_HUMAN	S	602;490	ENSP00000268919:P602S	ENSP00000268919:P602S	P	+	1	0	KIF2B	49257197	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.212000	0.02994	-1.989000	0.00979	-3.555000	0.00030	CCC		PASS	0.423	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		62	134	62	134	---	---	---	---
LPO	4025	broad.mit.edu	37	17	56329601	56329601	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:56329601C>G	ENST00000262290.4	+	8	1155	c.839C>G	c.(838-840)gCt>gGt	p.A280G	LPO_ENST00000543544.1_Missense_Mutation_p.A221G|LPO_ENST00000421678.2_Missense_Mutation_p.A197G|LPO_ENST00000582328.1_Missense_Mutation_p.A197G	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	280					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.A280G(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TTCTTCCGAGCTGGGTTCGTC	0.592																																						uc002ivt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(838-840)GCT>GGT		lactoperoxidase isoform 1 preproprotein							99.0	86.0	91.0					17																	56329601		2203	4300	6503	SO:0001583	missense	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56329601C>G	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.839C>G	17.37:g.56329601C>G	ENSP00000262290:p.Ala280Gly					LPO_uc010wns.1_Missense_Mutation_p.A221G|LPO_uc010dcp.2_Missense_Mutation_p.A197G|LPO_uc010dcq.2_Intron|LPO_uc010dcr.2_5'UTR	p.A280G	NM_006151	NP_006142	P22079	PERL_HUMAN			8	1155	+			280					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.839C>G	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066454	0.55539	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73789	-0.78;-0.78;-0.78	5.3	5.3	0.74995	.	0.170473	0.53938	D	0.000059	T	0.73969	0.3655	M	0.66939	2.045	0.44834	D	0.997849	B;B	0.12630	0.0;0.006	B;B	0.13407	0.001;0.009	T	0.72714	-0.4210	10	0.87932	D	0	.	16.1084	0.81241	0.0:1.0:0.0:0.0	.	197;280	E7EMJ3;P22079	.;PERL_HUMAN	G	280;197;221;25	ENSP00000262290:A280G;ENSP00000400245:A197G;ENSP00000445344:A221G	ENSP00000262290:A280G	A	+	2	0	LPO	53684600	0.996000	0.38824	0.754000	0.31244	0.492000	0.33523	6.568000	0.73987	2.480000	0.83734	0.655000	0.94253	GCT		PASS	0.592	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			17	81	17	81	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60759627	60759627	+	Silent	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:60759627C>A	ENST00000303375.5	+	20	3237	c.2835C>A	c.(2833-2835)gcC>gcA	p.A945A	MRC2_ENST00000446119.2_De_novo_Start_OutOfFrame|RNU6-446P_ENST00000362827.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	945	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.A945A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCTGACAGCCTTGCCCTACA	0.657																																						uc002jad.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2833-2835)GCC>GCA		mannose receptor, C type 2							32.0	27.0	29.0					17																	60759627		2199	4296	6495	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60759627C>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2835C>A	17.37:g.60759627C>A						MRC2_uc002jae.2_Silent_p.A16A|MRC2_uc002jaf.2_5'UTR	p.A945A	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			20	3237	+			945			Extracellular (Potential).|C-type lectin 5.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.2835C>A	CCDS11634.1																																																																																				PASS	0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			19	8	19	8	---	---	---	---
GH2	2689	broad.mit.edu	37	17	61958797	61958797	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:61958797G>A	ENST00000423893.2	-	2	154	c.93C>T	c.(91-93)ccC>ccT	p.P31P	GH2_ENST00000332800.7_Silent_p.P31P|GH2_ENST00000456543.2_Silent_p.P31P|GH2_ENST00000449787.2_Silent_p.P31P			P01242	SOM2_HUMAN	growth hormone 2	31					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.P31P(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GCCTGGATAAGGGAATGGTTG	0.582																																						uc002jco.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(2)|pancreas(1)	3						c.(91-93)CCC>CCT		growth hormone 2 isoform 1							142.0	152.0	149.0					17																	61958797		2203	4300	6503	SO:0001819	synonymous_variant	2689					extracellular region	hormone activity	g.chr17:61958797G>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.93C>T	17.37:g.61958797G>A						GH2_uc002jcj.2_Silent_p.P31P|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.P31P|GH2_uc002jcm.1_Silent_p.P31P|GH2_uc002jcn.1_Silent_p.P31P	p.P31P	NM_002059	NP_002050	P01242	SOM2_HUMAN			2	155	-			31					B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	ENST00000423893.2	37	c.93C>T	CCDS11647.1																																																																																				PASS	0.582	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		39	290	39	290	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65850532	65850532	+	Silent	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:65850532C>T	ENST00000321892.4	+	2	1151	c.1090C>T	c.(1090-1092)Cta>Tta	p.L364L	BPTF_ENST00000424123.3_Silent_p.L225L|BPTF_ENST00000306378.6_Silent_p.L364L|BPTF_ENST00000335221.5_Silent_p.L364L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	364					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L364L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATCAAAGTTCTACAGTTTCT	0.433																																						uc002jgf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(1090-1092)CTA>TTA		bromodomain PHD finger transcription factor							150.0	146.0	147.0					17																	65850532		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65850532C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1090C>T	17.37:g.65850532C>T						BPTF_uc002jge.2_Silent_p.L364L|BPTF_uc010wqm.1_Silent_p.L364L	p.L364L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1151	+	all_cancers(12;6e-11)		364					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.1090C>T																																																																																					PASS	0.433	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		31	157	31	157	---	---	---	---
CD300C	10871	broad.mit.edu	37	17	72539080	72539080	+	Silent	SNP	T	T	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:72539080T>A	ENST00000330793.1	-	3	807	c.447A>T	c.(445-447)tcA>tcT	p.S149S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	149	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.S149S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGGGAGGACCTGAGGTGCCCA	0.632																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	uc002jky.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)TCA>TCT		CD300C antigen precursor							111.0	96.0	101.0					17																	72539080		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539080T>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.447A>T	17.37:g.72539080T>A							p.S149S	NM_006678	NP_006669	Q08708	CLM6_HUMAN			3	808	-			149			Pro-rich.|Extracellular (Potential).			Silent	SNP	ENST00000330793.1	37	c.447A>T	CCDS11701.1																																																																																				PASS	0.632	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		21	138	21	138	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78317711	78317711	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr17:78317711A>G	ENST00000582970.1	+	28	6381	c.6238A>G	c.(6238-6240)Atg>Gtg	p.M2080V	RNF213_ENST00000336301.6_Missense_Mutation_p.M153V|RNF213_ENST00000508628.2_Missense_Mutation_p.M2129V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2080					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M153V(1)|p.M2129V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAATACTTAATGGATATAAA	0.458																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(457-459)ATG>GTG		ring finger protein 213							147.0	136.0	139.0					17																	78317711		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78317711A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6238A>G	17.37:g.78317711A>G	ENSP00000464087:p.Met2080Val						p.M153V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		3	680	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.457A>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	7.649	0.682488	0.14907	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22336	1.96	5.92	3.67	0.42095	.	0.174541	0.49916	D	0.000131	T	0.12902	0.0313	L	0.32530	0.975	0.09310	N	0.999993	B	0.25441	0.126	B	0.21546	0.035	T	0.28586	-1.0039	10	0.21014	T	0.42	.	5.4623	0.16624	0.689:0.0:0.1866:0.1244	.	153	Q63HN8	RN213_HUMAN	V	2080;2129;153	ENSP00000338218:M153V	ENSP00000338218:M153V	M	+	1	0	RNF213	75932306	0.896000	0.30565	0.465000	0.27155	0.706000	0.40770	1.935000	0.40173	0.470000	0.27294	0.459000	0.35465	ATG		PASS	0.458	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		35	204	35	204	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2656159	2656159	+	Missense_Mutation	SNP	T	T	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr18:2656159T>A	ENST00000320876.6	+	1	423	c.85T>A	c.(85-87)Tac>Aac	p.Y29N	SMCHD1_ENST00000261598.8_Missense_Mutation_p.Y29N|CBX3P2_ENST00000579647.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	29					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.Y29N(3)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAGGACGGTGTACTTGTTTGA	0.667																																						uc002klm.3																			3	Substitution - Missense(3)		lung(3)		0						c.(85-87)TAC>AAC		structural maintenance of chromosomes flexible							16.0	23.0	21.0					18																	2656159		1922	4107	6029	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2656159T>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.85T>A	18.37:g.2656159T>A	ENSP00000326603:p.Tyr29Asn						p.Y29N	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			1	274	+			29					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.85T>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977515	0.34848	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26373	1.74;1.75	4.13	4.13	0.48395	.	0.426630	0.18345	N	0.144056	T	0.17916	0.0430	N	0.14661	0.345	0.32838	D	0.504915	P	0.51791	0.948	B	0.44315	0.446	T	0.19418	-1.0306	10	0.87932	D	0	.	10.8123	0.46553	0.0:0.0:0.0:1.0	.	29	A6NHR9	SMHD1_HUMAN	N	29	ENSP00000326603:Y29N;ENSP00000261598:Y29N	ENSP00000261598:Y29N	Y	+	1	0	SMCHD1	2646159	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	2.912000	0.48782	1.647000	0.50633	0.459000	0.35465	TAC		PASS	0.667	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			11	6	11	6	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30926220	30926220	+	Missense_Mutation	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr18:30926220A>G	ENST00000383096.3	-	9	795	c.613T>C	c.(613-615)Tgg>Cgg	p.W205R	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.W205R|CCDC178_ENST00000402325.1_Missense_Mutation_p.W205R|CCDC178_ENST00000406524.2_Missense_Mutation_p.W205R|CCDC178_ENST00000579947.1_Missense_Mutation_p.W205R|CCDC178_ENST00000403303.1_Missense_Mutation_p.W205R|CCDC178_ENST00000300227.8_Missense_Mutation_p.W205R			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	205								p.W205R(2)									CAGACTGACCAAGAGTCAATT	0.368																																						uc002kxn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(613-615)TGG>CGG		hypothetical protein LOC374864 isoform 1							115.0	115.0	115.0					18																	30926220		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30926220A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.613T>C	18.37:g.30926220A>G	ENSP00000372576:p.Trp205Arg					C18orf34_uc010xbr.1_Missense_Mutation_p.W205R|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.W205R|C18orf34_uc002kxp.2_Missense_Mutation_p.W205R	p.W205R	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			8	755	-			205					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.613T>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525519	0.27299	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.48836	2.4;2.4;2.4;2.4;2.4;0.8	5.59	5.59	0.84812	.	.	.	.	.	T	0.62270	0.2414	L	0.52573	1.65	0.35427	D	0.793756	D;D;D;D	0.89917	1.0;0.994;0.994;0.994	D;D;D;D	0.78314	0.991;0.976;0.976;0.976	T	0.72343	-0.4322	9	0.62326	D	0.03	-5.9952	13.2917	0.60274	1.0:0.0:0.0:0.0	.	205;205;205;205	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	R	205	ENSP00000385591:W205R;ENSP00000372576:W205R;ENSP00000300227:W205R;ENSP00000385867:W205R;ENSP00000385234:W205R;ENSP00000382130:W205R	ENSP00000300227:W205R	W	-	1	0	C18orf34	29180218	0.978000	0.34361	1.000000	0.80357	0.918000	0.54935	2.455000	0.44988	2.129000	0.65627	0.455000	0.32223	TGG		PASS	0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		40	35	40	35	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43204660	43204660	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr18:43204660C>A	ENST00000255226.6	+	2	847	c.31C>A	c.(31-33)Cca>Aca	p.P11T	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P11T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	11					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.P11T(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTCTCCTGCCAGAGCCACT	0.567																																						uc010dnj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(31-33)CCA>ACA		solute carrier family 14 (urea transporter),							64.0	60.0	62.0					18																	43204660		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43204660C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.31C>A	18.37:g.43204660C>A	ENSP00000255226:p.Pro11Thr					SLC14A2_uc002lbb.2_Missense_Mutation_p.P11T|SLC14A2_uc002lbe.2_Missense_Mutation_p.P11T	p.P11T	NM_007163	NP_009094	Q15849	UT2_HUMAN			3	352	+			11					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.31C>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195400	0.38806	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.52754	1.42;0.65	4.68	-2.04	0.07343	.	1.091720	0.06999	N	0.823030	T	0.33731	0.0873	N	0.25647	0.755	0.25938	N	0.982909	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	10	0.42905	T	0.14	1.2306	10.0073	0.41964	0.186:0.6209:0.1931:0.0	.	11;11	Q15849;E7EPU1	UT2_HUMAN;.	T	11	ENSP00000255226:P11T;ENSP00000320689:P11T	ENSP00000255226:P11T	P	+	1	0	SLC14A2	41458658	0.059000	0.20769	0.898000	0.35279	0.976000	0.68499	-0.106000	0.10890	-0.754000	0.04715	0.462000	0.41574	CCA		PASS	0.567	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			31	37	31	37	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610487	10610487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:10610487G>A	ENST00000171111.5	-	2	770	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Nonsense_Mutation_p.Q75*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	75					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.Q75*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TCACACAGCTGCTGGCTGAGC	0.607																																						uc002moq.1																			1	Substitution - Nonsense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(223-225)CAG>TAG		kelch-like ECH-associated protein 1							113.0	85.0	95.0					19																	10610487		2203	4300	6503	SO:0001587	stop_gained	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610487G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.223C>T	19.37:g.10610487G>A	ENSP00000171111:p.Gln75*					KEAP1_uc002mor.1_Nonsense_Mutation_p.Q75*	p.Q75*	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	379	-			75					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Nonsense_Mutation	SNP	ENST00000171111.5	37	c.223C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	38	6.683959	0.97759	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	.	.	.	4.99	4.99	0.66335	.	0.117110	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.778	0.78240	0.0:0.0:1.0:0.0	.	.	.	.	X	75	.	ENSP00000171111:Q75X	Q	-	1	0	KEAP1	10471487	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.176000	0.65026	2.335000	0.79485	0.462000	0.41574	CAG		PASS	0.607	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		38	33	38	33	---	---	---	---
RAB3D	9545	broad.mit.edu	37	19	11446165	11446165	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:11446165C>A	ENST00000222120.3	-	4	690	c.430G>T	c.(430-432)Gtt>Ttt	p.V144F	RAB3D_ENST00000589655.1_Missense_Mutation_p.V144F	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	144					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.V144F(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GCAGGCACAACACGTTCGTCC	0.617																																						uc002mqy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(430-432)GTT>TTT		RAB3D, member RAS oncogene family							90.0	72.0	78.0					19																	11446165		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11446165C>A	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.430G>T	19.37:g.11446165C>A	ENSP00000222120:p.Val144Phe						p.V144F	NM_004283	NP_004274	O95716	RAB3D_HUMAN			4	668	-			144						Missense_Mutation	SNP	ENST00000222120.3	37	c.430G>T	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965552	0.53507	.	.	ENSG00000105514	ENST00000222120	T	0.80480	-1.38	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.229624	0.36303	N	0.002676	D	0.85682	0.5753	M	0.75085	2.285	0.21445	N	0.999687	P	0.35844	0.524	P	0.50570	0.644	T	0.79738	-0.1677	10	0.87932	D	0	.	10.9453	0.47297	0.0:0.9087:0.0:0.0913	.	144	O95716	RAB3D_HUMAN	F	144	ENSP00000222120:V144F	ENSP00000222120:V144F	V	-	1	0	RAB3D	11307165	0.003000	0.15002	0.178000	0.23040	0.811000	0.45836	0.075000	0.14686	2.575000	0.86900	0.448000	0.29417	GTT		PASS	0.617	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		13	24	13	24	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16318920	16318920	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:16318920T>C	ENST00000291439.3	+	4	807	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	AP1M1_ENST00000590756.1_Missense_Mutation_p.F48L|AP1M1_ENST00000444449.2_Missense_Mutation_p.F120L|AP1M1_ENST00000429941.2_Missense_Mutation_p.F120L|AP1M1_ENST00000541844.1_Missense_Mutation_p.F48L	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	120					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.F120L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GCTCATGGACTTCGGCTACCC	0.602																																						uc002ndu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(358-360)TTC>CTC		adaptor-related protein complex 1, mu 1 subunit							95.0	89.0	91.0					19																	16318920		2203	4300	6503	SO:0001583	missense	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16318920T>C		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.358T>C	19.37:g.16318920T>C	ENSP00000291439:p.Phe120Leu					AP1M1_uc002ndv.2_Missense_Mutation_p.F120L|AP1M1_uc010xpd.1_Missense_Mutation_p.F120L	p.F120L	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN			4	531	+			120					Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.358T>C	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300193	0.60195	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.66460	0.39;0.39;0.43;-0.21	3.92	3.92	0.45320	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	H	0.95950	3.745	0.80722	D	1	P;D;D	0.55385	0.76;0.971;0.971	B;D;P	0.64506	0.378;0.926;0.868	D	0.88787	0.3275	10	0.66056	D	0.02	-32.2637	11.7524	0.51855	0.0:0.0:0.0:1.0	.	120;120;120	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	L	120;120;48;120	ENSP00000388996:F120L;ENSP00000291439:F120L;ENSP00000445682:F48L;ENSP00000411498:F120L	ENSP00000291439:F120L	F	+	1	0	AP1M1	16179920	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.524000	0.81866	1.660000	0.50760	0.383000	0.25322	TTC		PASS	0.602	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		44	43	44	43	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24288805	24288805	+	Missense_Mutation	SNP	A	A	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:24288805A>T	ENST00000357002.4	+	2	209	c.94A>T	c.(94-96)Att>Ttt	p.I32F	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.I32F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I32F(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ACACCTGGACATTGCACAGCA	0.403																																						uc002nru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)ATT>TTT		zinc finger protein 254							111.0	121.0	118.0					19																	24288805		2203	4300	6503	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24288805A>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.94A>T	19.37:g.24288805A>T	ENSP00000349494:p.Ile32Phe					ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_RNA	p.I32F	NM_203282	NP_975011	O75437	ZN254_HUMAN			2	228	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	32			KRAB.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.94A>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.342572	0.24339	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.01665	4.7;4.7	0.225	0.225	0.15325	Krueppel-associated box (4);	.	.	.	.	T	0.00906	0.0030	N	0.02539	-0.55	0.34205	D	0.673621	B	0.23540	0.087	B	0.21360	0.034	T	0.45862	-0.9232	8	0.45353	T	0.12	.	.	.	.	.	32	O75437	ZN254_HUMAN	F	32	ENSP00000349494:I32F;ENSP00000341573:I32F	ENSP00000341573:I32F	I	+	1	0	ZNF254	24080645	0.001000	0.12720	0.590000	0.28732	0.597000	0.36814	-2.034000	0.01424	0.257000	0.21650	0.254000	0.18369	ATT		PASS	0.403	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		39	144	39	144	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37678108	37678108	+	Missense_Mutation	SNP	T	T	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:37678108T>C	ENST00000532828.2	-	5	582	c.331A>G	c.(331-333)Atc>Gtc	p.I111V	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Missense_Mutation_p.I111V|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000531805.1_Missense_Mutation_p.I56V	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I111V(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATAACCGATGATTTTTCTA	0.353																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(331-333)ATC>GTC		zinc finger protein 585B							56.0	61.0	59.0					19																	37678108		2202	4294	6496	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37678108T>C	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.331A>G	19.37:g.37678108T>C	ENSP00000433773:p.Ile111Val					ZNF585B_uc002ofr.1_5'UTR	p.I111V	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	585	-			111					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.331A>G	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	0.285	-0.983517	0.02180	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.07216	3.21;3.32;6.92	2.58	-2.6	0.06190	.	0.611747	0.12451	U	0.467776	T	0.03564	0.0102	N	0.11313	0.125	0.18873	N	0.999986	B	0.10296	0.003	B	0.06405	0.002	T	0.36529	-0.9744	10	0.66056	D	0.02	.	3.4434	0.07472	0.5731:0.0:0.2261:0.2009	.	111	Q52M93	Z585B_HUMAN	V	56;111;111	ENSP00000436774:I56V;ENSP00000433773:I111V;ENSP00000435268:I111V	ENSP00000435268:I111V	I	-	1	0	ZNF585B	42369948	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.067000	0.14510	-0.340000	0.08388	-0.691000	0.03719	ATC		PASS	0.353	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		22	86	22	86	---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40885636	40885636	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:40885636C>A	ENST00000291823.2	-	4	1993	c.1709G>T	c.(1708-1710)gGa>gTa	p.G570V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	570					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G570V(1)|p.G495V(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CAGCCATTCTCCAGGACAGCT	0.647																																						uc002onp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|stomach(1)	2						c.(1708-1710)GGA>GTA		homeodomain interacting protein kinase 4							21.0	23.0	22.0					19																	40885636		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40885636C>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1709G>T	19.37:g.40885636C>A	ENSP00000291823:p.Gly570Val						p.G570V	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		4	1994	-			570					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1709G>T	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397400	0.62177	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.67865	-0.29	5.12	4.02	0.46733	.	0.000000	0.53938	D	0.000041	T	0.54191	0.1843	L	0.27053	0.805	0.58432	D	0.999998	P	0.48834	0.916	B	0.43990	0.438	T	0.58869	-0.7560	10	0.59425	D	0.04	.	10.3875	0.44150	0.1951:0.8049:0.0:0.0	.	570	Q8NE63	HIPK4_HUMAN	V	570;535	ENSP00000291823:G570V	ENSP00000291823:G570V	G	-	2	0	HIPK4	45577476	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	1.384000	0.34396	2.561000	0.86390	0.462000	0.41574	GGA		PASS	0.647	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		7	39	7	39	---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44891507	44891507	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:44891507G>C	ENST00000330997.4	-	4	964	c.900C>G	c.(898-900)agC>agG	p.S300R	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S300R|ZNF285_ENST00000591679.1_Missense_Mutation_p.S307R	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S300R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GAAGGTCTGAGCTCTGTTTGC	0.468																																						uc002ozd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(898-900)AGC>AGG		zinc finger protein 285							84.0	93.0	90.0					19																	44891507		2203	4300	6503	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891507G>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.900C>G	19.37:g.44891507G>C	ENSP00000333595:p.Ser300Arg					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.S307R	p.S300R	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	987	-			300					Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.900C>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	g	5.142	0.211887	0.09757	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.15603	2.41	3.8	0.34	0.15985	.	.	.	.	.	T	0.10294	0.0252	L	0.39566	1.225	0.09310	N	0.999995	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.003	T	0.42378	-0.9455	9	0.09590	T	0.72	.	3.7323	0.08498	0.3867:0.0:0.4494:0.1639	.	324;300	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	R	323;300	ENSP00000333595:S300R	ENSP00000333595:S300R	S	-	3	2	ZNF285	49583347	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	-1.443000	0.02405	-0.042000	0.13535	-1.271000	0.01417	AGC		PASS	0.468	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		74	151	74	151	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47200993	47200993	+	Silent	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:47200993C>G	ENST00000291281.4	-	8	1461	c.1236G>C	c.(1234-1236)acG>acC	p.T412T	PRKD2_ENST00000601806.1_Silent_p.T255T|PRKD2_ENST00000600194.1_Silent_p.T255T|PRKD2_ENST00000433867.1_Silent_p.T412T|PRKD2_ENST00000595515.1_Silent_p.T412T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	412	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.T412T(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		cACTCACCAGCGTGTCCTTGT	0.662																																						uc002pfh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1234-1236)ACG>ACC		protein kinase D2 isoform A							86.0	69.0	75.0					19																	47200993		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47200993C>G	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1236G>C	19.37:g.47200993C>G						PRKD2_uc002pfe.2_5'Flank|PRKD2_uc002pff.2_5'Flank|PRKD2_uc002pfg.2_Silent_p.T255T|PRKD2_uc002pfi.2_Silent_p.T412T|PRKD2_uc002pfj.2_Silent_p.T412T|PRKD2_uc010xye.1_Silent_p.T412T|PRKD2_uc002pfk.2_Silent_p.T255T	p.T412T	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	9	1578	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	412			PH.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1236G>C	CCDS12689.1																																																																																				PASS	0.662	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		27	78	27	78	---	---	---	---
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600910.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721								Other BER factors																														uc002pqh.2																			8	Substitution - coding silent(8)		lung(6)|urinary_tract(2)	ovary(1)|kidney(1)	2						c.(46-48)CCT>CCC	Other_BER_factors	polynucleotide kinase 3' phosphatase							10.0	13.0	12.0					19																	50370414		2073	4105	6178	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370414A>G	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.48T>C	19.37:g.50370414A>G						PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P	p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	1	100	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	16					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.48T>C	CCDS12783.1																																																																																				PASS	0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		7	29	7	29	---	---	---	---
NUP62	23636	broad.mit.edu	37	19	50412728	50412728	+	Missense_Mutation	SNP	C	C	G	rs200398387	byFrequency	TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:50412728C>G	ENST00000596217.1	-	2	2224	c.337G>C	c.(337-339)Ggc>Cgc	p.G113R	NUP62_ENST00000422090.2_Missense_Mutation_p.G113R|NUP62_ENST00000597723.1_Missense_Mutation_p.G113R|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.G113R|NUP62_ENST00000352066.3_Missense_Mutation_p.G113R|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.G113R			P37198	NUP62_HUMAN	nucleoporin 62kDa	113	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)	p.G113C(1)|p.G113R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCCCAAAGCCGCTGGGGTTT	0.592																																						uc002pqx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(337-339)GGC>CGC		nucleoporin 62kDa							73.0	77.0	75.0					19																	50412728		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412728C>G	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.337G>C	19.37:g.50412728C>G	ENSP00000471191:p.Gly113Arg					IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.G113R|NUP62_uc002pqz.2_Missense_Mutation_p.G113R|NUP62_uc002pra.2_Missense_Mutation_p.G113R|NUP62_uc002prb.2_Missense_Mutation_p.G113R|NUP62_uc002prc.2_Missense_Mutation_p.G113R	p.G113R	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	441	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	113			15 X 9 AA approximate repeats.|Thr-rich.|8.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.337G>C	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535914	0.27475	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.39787	1.06;1.06;1.06	5.07	-1.01	0.10169	Nucleoporin, NSP1-like, C-terminal (1);	1.161920	0.06691	U	0.769625	T	0.50514	0.1620	M	0.72118	2.19	0.20975	N	0.999811	P;P	0.46457	0.878;0.807	P;P	0.50754	0.649;0.447	T	0.48352	-0.9043	10	0.46703	T	0.11	-4.8982	7.7735	0.29023	0.0:0.4959:0.0:0.5041	.	113;113	Q8WYU3;P37198	.;NUP62_HUMAN	R	113	ENSP00000305503:G113R;ENSP00000407331:G113R;ENSP00000387991:G113R	ENSP00000321866:G113R	G	-	1	0	NUP62	55104540	0.001000	0.12720	0.020000	0.16555	0.001000	0.01503	-0.087000	0.11215	-0.123000	0.11745	-1.191000	0.01696	GGC		PASS	0.592	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		108	40	108	40	---	---	---	---
DEFB127	140850	broad.mit.edu	37	20	139433	139433	+	Missense_Mutation	SNP	A	A	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr20:139433A>T	ENST00000382388.3	+	2	143	c.68A>T	c.(67-69)aAg>aTg	p.K23M		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	23					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)		p.K23M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAACTTAAGAAGTGCTGGAAT	0.418																																						uc002wcy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)AAG>ATG		defensin, beta 127 preproprotein							81.0	74.0	76.0					20																	139433		2203	4300	6503	SO:0001583	missense	140850				defense response to bacterium|innate immune response	extracellular region		g.chr20:139433A>T	AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"""Defensins, beta"""	16206	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 73"""	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.68A>T	20.37:g.139433A>T	ENSP00000371825:p.Lys23Met						p.K23M	NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	68	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	23					Q14DW7	Missense_Mutation	SNP	ENST00000382388.3	37	c.68A>T	CCDS12991.1	.	.	.	.	.	.	.	.	.	.	A	5.052	0.195333	0.09599	.	.	ENSG00000088782	ENST00000382388	T	0.15952	2.38	3.26	-6.51	0.01878	.	0.694969	0.11810	N	0.527275	T	0.22003	0.0530	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.54174	0.744	T	0.09729	-1.0661	9	0.87932	D	0	-7.4351	7.3853	0.26878	0.3293:0.238:0.4327:0.0	.	23	Q9H1M4	DB127_HUMAN	M	23	ENSP00000371825:K23M	ENSP00000371825:K23M	K	+	2	0	DEFB127	87433	0.917000	0.31117	0.062000	0.19696	0.013000	0.08279	-0.468000	0.06656	-2.559000	0.00474	-2.386000	0.00229	AAG		PASS	0.418	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1	NM_139074		3	29	3	29	---	---	---	---
HCK	3055	broad.mit.edu	37	20	30674582	30674582	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr20:30674582C>G	ENST00000520553.1	+	9	1170	c.924C>G	c.(922-924)atC>atG	p.I308M	HCK_ENST00000538448.1_Missense_Mutation_p.I308M|HCK_ENST00000518730.1_Missense_Mutation_p.I307M|HCK_ENST00000375862.2_Missense_Mutation_p.I328M|HCK_ENST00000375852.2_Missense_Mutation_p.I329M|HCK_ENST00000534862.1_Missense_Mutation_p.I309M	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	329	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.I308M(1)|p.I329M(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AGGAGCCCATCTACATCATCA	0.587																																						uc002wxh.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(985-987)ATC>ATG		hemopoietic cell kinase isoform p61HCK							133.0	97.0	109.0					20																	30674582		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30674582C>G	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.924C>G	20.37:g.30674582C>G	ENSP00000429848:p.Ile308Met					HCK_uc010gdy.2_Missense_Mutation_p.I308M|HCK_uc002wxi.2_Missense_Mutation_p.I307M	p.I329M	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		9	1158	+			329			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.987C>G	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141899	0.57044	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.96	1.98	0.26296	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	L	0.41573	1.285	0.45554	D	0.998504	P;P	0.49559	0.909;0.925	D;D	0.70716	0.95;0.97	T	0.80291	-0.1444	10	0.72032	D	0.01	.	4.4231	0.11490	0.245:0.521:0.0:0.234	.	307;329	P08631-3;P08631	.;HCK_HUMAN	M	309;308;328;308;307;329	ENSP00000444986:I309M;ENSP00000441169:I308M;ENSP00000365022:I328M;ENSP00000429848:I308M;ENSP00000427757:I307M;ENSP00000365012:I329M	ENSP00000365012:I329M	I	+	3	3	HCK	30138243	0.994000	0.37717	1.000000	0.80357	0.967000	0.64934	0.452000	0.21795	0.288000	0.22398	0.491000	0.48974	ATC		PASS	0.587	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			17	56	17	56	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39978997	39978997	+	Silent	SNP	A	A	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr20:39978997A>T	ENST00000373257.3	+	7	1153	c.1062A>T	c.(1060-1062)ccA>ccT	p.P354P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	354					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.P354P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGGAGGTTCCAGTTCCCACCG	0.642																																						uc002xjx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1060-1062)CCA>CCT		lipin 3							27.0	29.0	28.0					20																	39978997		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39978997A>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1062A>T	20.37:g.39978997A>T						LPIN3_uc010ggh.2_Silent_p.P355P|LPIN3_uc010zwf.1_RNA	p.P354P	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			7	1153	+		Myeloproliferative disorder(115;0.000739)	354					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1062A>T	CCDS33469.1																																																																																				PASS	0.642	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		9	23	9	23	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40043905	40043905	+	Missense_Mutation	SNP	C	C	A	rs377394878		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr20:40043905C>A	ENST00000373233.3	-	34	7037	c.6860G>T	c.(6859-6861)cGg>cTg	p.R2287L	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2287					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R2287L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTCCCTCTCCGCCTCCTCGT	0.517																																						uc002xka.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6859-6861)CGG>CTG		chromodomain helicase DNA binding protein 6							122.0	110.0	114.0					20																	40043905		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40043905C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6860G>T	20.37:g.40043905C>A	ENSP00000362330:p.Arg2287Leu					CHD6_uc002xjz.1_5'Flank	p.R2287L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			34	7038	-		Myeloproliferative disorder(115;0.00425)	2287			Poly-Arg.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6860G>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988909	0.93106	.	.	ENSG00000124177	ENST00000373233	D	0.94758	-3.51	6.16	6.16	0.99307	.	0.000000	0.50627	D	0.000116	D	0.97185	0.9080	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96905	0.9663	10	0.87932	D	0	-18.4166	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2287	Q8TD26	CHD6_HUMAN	L	2287	ENSP00000362330:R2287L	ENSP00000362330:R2287L	R	-	2	0	CHD6	39477319	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.453000	0.80700	2.937000	0.99478	0.650000	0.86243	CGG		PASS	0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			54	106	54	106	---	---	---	---
CSE1L	1434	broad.mit.edu	37	20	47683023	47683023	+	Missense_Mutation	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr20:47683023G>A	ENST00000262982.2	+	5	575	c.452G>A	c.(451-453)cGt>cAt	p.R151H	CSE1L_ENST00000396192.3_Missense_Mutation_p.R151H|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	151					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.R151H(2)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAGTCCTCCGTACAGCACAT	0.343																																						uc002xty.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	large_intestine(1)|skin(1)	2						c.(451-453)CGT>CAT		CSE1 chromosome segregation 1-like protein							98.0	92.0	94.0					20																	47683023		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47683023G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.452G>A	20.37:g.47683023G>A	ENSP00000262982:p.Arg151His					CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.R151H	p.R151H	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		5	586	+			151					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.452G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041334	0.35989	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.68331	-0.32;-0.32	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.048885	0.85682	D	0.000000	T	0.46833	0.1413	N	0.20610	0.595	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.38693	-0.9649	10	0.15066	T	0.55	-11.8389	9.5366	0.39226	0.1588:0.0:0.8412:0.0	.	151;151	F8W904;P55060	.;XPO2_HUMAN	H	151	ENSP00000262982:R151H;ENSP00000379495:R151H	ENSP00000262982:R151H	R	+	2	0	CSE1L	47116430	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.745000	0.74860	2.481000	0.83766	0.455000	0.32223	CGT		PASS	0.343	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		3	58	3	58	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62598349	62598349	+	Silent	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr20:62598349C>A	ENST00000450537.1	-	4	333	c.273G>T	c.(271-273)ctG>ctT	p.L91L	ZNF512B_ENST00000369888.1_Silent_p.L91L|ZNF512B_ENST00000217130.3_Silent_p.L91L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L91L(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGTCGTTCATCAGGGAGAGCT	0.637																																						uc002yhl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(271-273)CTG>CTT		zinc finger protein 512B							113.0	103.0	106.0					20																	62598349		2202	4300	6502	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598349C>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.273G>T	20.37:g.62598349C>A							p.L91L	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			4	327	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		91					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.273G>T	CCDS13548.1																																																																																				PASS	0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		13	96	13	96	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37618877	37618877	+	Silent	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr21:37618877C>G	ENST00000399151.3	+	19	4684	c.4599C>G	c.(4597-4599)tcC>tcG	p.S1533S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1533					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.S1533S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCGGAAAGTCCCTGGGCTGGA	0.552																																						uc002yvg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4597-4599)TCC>TCG		pad-1-like							77.0	72.0	73.0					21																	37618877		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618877C>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4599C>G	21.37:g.37618877C>G						DOPEY2_uc011aeb.1_Silent_p.S1482S|DOPEY2_uc002yvh.2_Silent_p.S384S	p.S1533S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	4678	+			1533					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.4599C>G	CCDS13643.1																																																																																				PASS	0.552	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		39	57	39	57	---	---	---	---
IGLC7	28834	broad.mit.edu	37	22	23264868	23264868	+	RNA	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:23264868C>A	ENST00000390331.2	+	0	103				IGLJ7_ENST00000390330.2_RNA			A0M8Q6	LAC7_HUMAN	immunoglobulin lambda constant 7						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GACTTCTACCCGGGAGCCGTG	0.597																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							70.0	76.0	74.0					22																	23264868		2201	4297	6498			96610							g.chr22:23264868C>A	X51755		22q11.2	2012-02-08			ENSG00000211685	ENSG00000211685		"""Immunoglobulins / IGL locus"""	5861	other	immunoglobulin gene							Standard	NG_000002		Approved			A0M8Q6	OTTHUMG00000151017		22.37:g.23264868C>A														379		+									RNA	SNP	ENST00000390331.2	37	c.16689C>A																																																																																					PASS	0.597	IGLC7-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000320966.4	NG_000002		6	37	6	37	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30415746	30415746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:30415746G>T	ENST00000401950.2	+	17	2440	c.2098G>T	c.(2098-2100)Gag>Tag	p.E700*	MTMR3_ENST00000333027.3_Nonsense_Mutation_p.E700*|MTMR3_ENST00000323630.5_Nonsense_Mutation_p.E564*|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000406629.1_Nonsense_Mutation_p.E700*|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Nonsense_Mutation_p.E700*	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	700					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.E700*(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CACCAAAGAGGAGAGTGGAGT	0.577																																						uc003agv.3																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2098-2100)GAG>TAG		myotubularin-related protein 3 isoform c							56.0	64.0	61.0					22																	30415746		2203	4300	6503	SO:0001587	stop_gained	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415746G>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2098G>T	22.37:g.30415746G>T	ENSP00000384651:p.Glu700*					MTMR3_uc003agu.3_Nonsense_Mutation_p.E700*|MTMR3_uc003agw.3_Nonsense_Mutation_p.E700*	p.E700*	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2426	+			700					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Nonsense_Mutation	SNP	ENST00000401950.2	37	c.2098G>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	37	6.587661	0.97684	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	.	.	.	5.8	5.8	0.92144	.	1.538250	0.03938	N	0.286347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	.	.	.	X	700;700;564;700;700	.	ENSP00000318070:E564X	E	+	1	0	MTMR3	28745746	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.695000	0.54749	2.735000	0.93741	0.655000	0.94253	GAG		PASS	0.577	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		38	81	38	81	---	---	---	---
PES1	23481	broad.mit.edu	37	22	30977576	30977576	+	Missense_Mutation	SNP	G	G	C	rs142214789	byFrequency	TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:30977576G>C	ENST00000405677.1	-	9	1212	c.269C>G	c.(268-270)aCg>aGg	p.T90R	PES1_ENST00000354694.7_Missense_Mutation_p.T229R|PES1_ENST00000335214.6_Missense_Mutation_p.T229R|PES1_ENST00000402284.3_Missense_Mutation_p.T212R|PES1_ENST00000402281.1_Missense_Mutation_p.T90R	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1									p.T229R(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GCCCAGCAGCGTGGTGTAGAA	0.597																																						uc003aij.1																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)ACG>AGG		pescadillo homolog 1, containing BRCT domain							96.0	66.0	77.0					22																	30977576		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30977576G>C	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.269C>G	22.37:g.30977576G>C	ENSP00000385654:p.Thr90Arg					PES1_uc003aik.1_Missense_Mutation_p.T229R|PES1_uc003ail.1_Missense_Mutation_p.T212R|PES1_uc003aim.1_Missense_Mutation_p.T229R|PES1_uc003ain.1_Missense_Mutation_p.T90R|PES1_uc003aio.1_Missense_Mutation_p.T90R	p.T229R	NM_014303	NP_055118	O00541	PESC_HUMAN			7	760	-			229			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.686C>G		.	.	.	.	.	.	.	.	.	.	G	32	5.156505	0.94686	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.996;0.997	D;D;D;D	0.67548	0.952;0.947;0.935;0.952	T	0.77413	-0.2597	10	0.72032	D	0.01	-25.9624	16.3155	0.82918	0.0:0.0:1.0:0.0	.	229;212;229;229	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	R	229;90;90;212;229	ENSP00000346725:T229R;ENSP00000384366:T90R;ENSP00000385654:T90R;ENSP00000384252:T212R;ENSP00000334612:T229R	ENSP00000334612:T229R	T	-	2	0	PES1	29307576	1.000000	0.71417	0.992000	0.48379	0.909000	0.53808	9.015000	0.93640	2.388000	0.81334	0.655000	0.94253	ACG		PASS	0.597	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		4	39	4	39	---	---	---	---
SFI1	9814	broad.mit.edu	37	22	32009832	32009832	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:32009832C>G	ENST00000400288.2	+	27	3092	c.2987C>G	c.(2986-2988)gCc>gGc	p.A996G	SFI1_ENST00000443326.1_Missense_Mutation_p.A914G|SFI1_ENST00000540643.1_Missense_Mutation_p.A941G|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000414585.1_Missense_Mutation_p.A843G|SFI1_ENST00000443011.1_Missense_Mutation_p.A843G|SFI1_ENST00000400289.1_Missense_Mutation_p.A914G|SFI1_ENST00000432498.1_Missense_Mutation_p.A965G	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	996					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.A996G(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GAGCCCCACGCCCTGGAGCTG	0.637											OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003ale.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2986-2988)GCC>GGC		spindle assembly associated Sfi1 homolog isoform							17.0	20.0	19.0					22																	32009832		2089	4215	6304	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32009832C>G	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2987C>G	22.37:g.32009832C>G	ENSP00000383145:p.Ala996Gly		OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	829	SFI1_uc003alf.2_Missense_Mutation_p.A965G|SFI1_uc003alg.2_Missense_Mutation_p.A914G|SFI1_uc011alp.1_Missense_Mutation_p.A902G|SFI1_uc011alq.1_Missense_Mutation_p.A941G|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank	p.A996G	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			27	3380	+			996					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.2987C>G	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	9.696	1.153138	0.21371	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.14640	3.08;3.08;2.91;2.89;2.91;2.91;3.07;2.49	5.19	1.7	0.24286	.	0.795263	0.11328	N	0.575307	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.52316	0.89;0.952;0.879;0.787;0.952	B;P;B;B;P	0.47827	0.344;0.558;0.325;0.212;0.558	T	0.21143	-1.0254	10	0.59425	D	0.04	.	4.1385	0.10183	0.3127:0.0896:0.0:0.5978	.	941;902;914;965;996	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	G	965;941;914;745;843;843;914;996;579	ENSP00000402679:A965G;ENSP00000443025:A941G;ENSP00000416469:A914G;ENSP00000397148:A843G;ENSP00000401199:A843G;ENSP00000383146:A914G;ENSP00000383145:A996G;ENSP00000398871:A579G	ENSP00000383145:A996G	A	+	2	0	SFI1	30339832	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.470000	0.22084	-0.032000	0.13758	-0.379000	0.06801	GCC		PASS	0.637	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		12	32	12	32	---	---	---	---
RASD2	23551	broad.mit.edu	37	22	35942906	35942906	+	Missense_Mutation	SNP	A	A	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:35942906A>C	ENST00000216127.4	+	2	692	c.50A>C	c.(49-51)aAa>aCa	p.K17T		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	17					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K17T(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GTGCCCGCCAAAAACTCATAC	0.607																																						uc003anx.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(49-51)AAA>ACA		RASD family, member 2 precursor							85.0	65.0	72.0					22																	35942906		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35942906A>C	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.50A>C	22.37:g.35942906A>C	ENSP00000216127:p.Lys17Thr					RASD2_uc003any.2_Missense_Mutation_p.K17T	p.K17T	NM_014310	NP_055125	Q96D21	RHES_HUMAN			2	255	+			17					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.50A>C	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085751	0.76642	.	.	ENSG00000100302	ENST00000216127	T	0.72282	-0.64	5.3	4.27	0.50696	.	0.044725	0.85682	D	0.000000	T	0.67088	0.2856	N	0.25245	0.725	0.45930	D	0.998761	D	0.55605	0.972	P	0.54664	0.758	T	0.67692	-0.5605	10	0.52906	T	0.07	.	10.8413	0.46718	0.9261:0.0:0.0739:0.0	.	17	Q96D21	RHES_HUMAN	T	17	ENSP00000216127:K17T	ENSP00000216127:K17T	K	+	2	0	RASD2	34272852	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.413000	0.80104	0.881000	0.35993	0.456000	0.33151	AAA		PASS	0.607	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		6	16	6	16	---	---	---	---
MGAT3	4248	broad.mit.edu	37	22	39883552	39883552	+	Missense_Mutation	SNP	C	C	T	rs62230587		TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:39883552C>T	ENST00000341184.6	+	2	415	c.200C>T	c.(199-201)cCt>cTt	p.P67L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	67	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.P67L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCAGGAGGCCCTGACCTGCTG	0.682																																						uc003axv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CCT>CTT		mannosyl (beta-1,4-)-glycoprotein							65.0	73.0	70.0					22																	39883552		2203	4299	6502	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883552C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.200C>T	22.37:g.39883552C>T	ENSP00000345270:p.Pro67Leu					MGAT3_uc010gxy.2_Missense_Mutation_p.P67L	p.P67L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	439	+	Melanoma(58;0.04)		67			Lumenal (Potential).|Pro-rich.		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.200C>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	9.207	1.029900	0.19512	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	4.93	4.93	0.64822	.	0.302577	0.28499	N	0.015128	T	0.51024	0.1650	N	0.19112	0.55	0.42125	D	0.991446	B	0.20261	0.043	B	0.19946	0.027	T	0.52019	-0.8631	9	0.66056	D	0.02	.	17.7362	0.88394	0.0:1.0:0.0:0.0	.	67	Q09327	MGAT3_HUMAN	L	67;67;95	.	ENSP00000345270:P67L	P	+	2	0	MGAT3	38213498	0.306000	0.24490	0.728000	0.30774	0.019000	0.09904	4.129000	0.57957	2.281000	0.76405	0.467000	0.42956	CCT		PASS	0.682	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		20	88	20	88	---	---	---	---
NAGA	4668	broad.mit.edu	37	22	42463813	42463813	+	Missense_Mutation	SNP	C	C	T	rs73167107	byFrequency	TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:42463813C>T	ENST00000396398.3	-	3	812	c.280G>A	c.(280-282)Gat>Aat	p.D94N	NAGA_ENST00000403363.1_Missense_Mutation_p.D94N|NAGA_ENST00000402937.1_Missense_Mutation_p.D94N	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	94					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)	p.D94N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CGCTTGGGATCCGGCATCAGG	0.617													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18209	0.0		0.001	False		,,,				2504	0.0					uc003bbx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(280-282)GAT>AAT		alpha-N-acetylgalactosaminidase precursor		C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	137.0	119.0	125.0		280	3.7	0.1	22	dbSNP_130	125	14,8586	10.5+/-38.8	0,14,4286	yes	missense	NAGA	NM_000262.2	23	0,16,6487	TT,TC,CC		0.1628,0.0454,0.123	benign	94/412	42463813	16,12990	2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42463813C>T		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.280G>A	22.37:g.42463813C>T	ENSP00000379680:p.Asp94Asn					NAGA_uc003bby.2_Missense_Mutation_p.D94N|NAGA_uc003bbw.3_Missense_Mutation_p.D94N	p.D94N	NM_000262	NP_000253	P17050	NAGAB_HUMAN			4	417	-			94						Missense_Mutation	SNP	ENST00000396398.3	37	c.280G>A	CCDS14030.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.94	3.729868	0.69074	4.54E-4	0.001628	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.83755	-1.76;-1.76;-1.76	4.66	3.65	0.41850	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.097961	0.64402	D	0.000002	T	0.76793	0.4037	L	0.41710	1.295	0.80722	D	1	B	0.24675	0.109	B	0.30316	0.114	T	0.71632	-0.4534	10	0.30854	T	0.27	-9.4392	12.8447	0.57823	0.0:0.921:0.0:0.079	.	94	P17050	NAGAB_HUMAN	N	94	ENSP00000379680:D94N;ENSP00000385283:D94N;ENSP00000384603:D94N	ENSP00000379680:D94N	D	-	1	0	NAGA	40793759	1.000000	0.71417	0.100000	0.21137	0.942000	0.58702	5.808000	0.69165	1.202000	0.43218	0.561000	0.74099	GAT		PASS	0.617	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			27	137	27	137	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45795100	45795100	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:45795100C>G	ENST00000357450.4	-	6	987	c.988G>C	c.(988-990)Gaa>Caa	p.E330Q	SMC1B_ENST00000404354.3_Missense_Mutation_p.E330Q	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	330					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E330Q(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATATCATCTTCCTGTTTAGAA	0.363																																						uc003bgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(988-990)GAA>CAA		SMC1 structural maintenance of chromosomes							204.0	181.0	189.0					22																	45795100		1842	4091	5933	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45795100C>G	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.988G>C	22.37:g.45795100C>G	ENSP00000350036:p.Glu330Gln					SMC1B_uc003bgd.2_Missense_Mutation_p.E330Q|SMC1B_uc003bge.1_Missense_Mutation_p.E113Q	p.E330Q	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	6	1040	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	330			Potential.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.988G>C	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	7.192	0.591803	0.13812	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.80033	-1.33;-1.18	5.7	4.67	0.58626	RecF/RecN/SMC (1);	0.189256	0.36972	N	0.002304	T	0.64327	0.2588	N	0.16903	0.455	0.44402	D	0.997319	B;B;B	0.15473	0.005;0.013;0.004	B;B;B	0.15484	0.006;0.006;0.013	T	0.56962	-0.7892	10	0.14656	T	0.56	.	10.6886	0.45858	0.0:0.7893:0.1341:0.0766	.	330;330;330	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	Q	330	ENSP00000350036:E330Q;ENSP00000385902:E330Q	ENSP00000350036:E330Q	E	-	1	0	SMC1B	44173764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.923000	0.28757	1.384000	0.46424	0.655000	0.94253	GAA		PASS	0.363	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		30	132	30	132	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47089354	47089354	+	Nonsense_Mutation	SNP	T	T	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:47089354T>A	ENST00000216264.8	-	10	1208	c.1096A>T	c.(1096-1098)Aag>Tag	p.K366*	CERK_ENST00000541677.1_Nonsense_Mutation_p.K168*|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	366					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.K366*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTGCTTTCTTCTGCTCCTCC	0.488																																						uc003bia.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1096-1098)AAG>TAG		ceramide kinase							216.0	181.0	193.0					22																	47089354		2203	4300	6503	SO:0001587	stop_gained	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47089354T>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1096A>T	22.37:g.47089354T>A	ENSP00000216264:p.Lys366*					CERK_uc010hae.2_Nonsense_Mutation_p.K168*	p.K366*	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	10	1203	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	366					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Nonsense_Mutation	SNP	ENST00000216264.8	37	c.1096A>T	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	t	36	5.963047	0.97151	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	.	.	.	5.34	5.34	0.76211	.	0.202184	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4858	14.1575	0.65426	0.0:0.0:0.0:1.0	.	.	.	.	X	366;168	.	ENSP00000216264:K366X	K	-	1	0	CERK	45468018	1.000000	0.71417	0.994000	0.49952	0.251000	0.25915	1.534000	0.36051	2.012000	0.59069	0.528000	0.53228	AAG		PASS	0.488	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		22	104	22	104	---	---	---	---
CXorf23	256643	broad.mit.edu	37	X	19968911	19968911	+	Missense_Mutation	SNP	C	C	T			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:19968911C>T	ENST00000379682.4	-	7	1738	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	CXorf23_ENST00000379687.3_Missense_Mutation_p.E569K|CXorf23_ENST00000356980.3_Missense_Mutation_p.E569K			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	569						mitochondrion (GO:0005739)		p.E569K(1)|p.E134K(1)		endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TGCTCATCTTCATTCTGTAAC	0.373																																						uc004czp.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(1705-1707)GAA>AAA		hypothetical protein LOC256643							292.0	197.0	229.0					X																	19968911		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19968911C>T	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1705G>A	X.37:g.19968911C>T	ENSP00000369004:p.Glu569Lys					CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.E134K|CXorf23_uc004czo.2_Missense_Mutation_p.E519K	p.E569K	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			7	1705	-			569					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1705G>A		.	.	.	.	.	.	.	.	.	.	C	25.2	4.617582	0.87359	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.15372	2.43;2.43;2.43	5.35	5.35	0.76521	.	.	.	.	.	T	0.40171	0.1106	M	0.65498	2.005	0.37213	D	0.904915	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.38001	-0.9681	8	.	.	.	.	14.9912	0.71390	0.0:1.0:0.0:0.0	.	280;569;569	B7ZLM9;A2AJT9-2;A2AJT9	.;.;CX023_HUMAN	K	569;569;569;457	ENSP00000369009:E569K;ENSP00000369004:E569K;ENSP00000349470:E569K	.	E	-	1	0	CXorf23	19878832	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.034000	0.49751	2.377000	0.81083	0.600000	0.82982	GAA		PASS	0.373	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		27	54	27	54	---	---	---	---
SLC38A5	92745	broad.mit.edu	37	X	48318223	48318223	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:48318223C>G	ENST00000376876.3	-	14	1951	c.1108G>C	c.(1108-1110)Gcc>Ccc	p.A370P	SLC38A5_ENST00000376875.1_Missense_Mutation_p.A319P|SLC38A5_ENST00000317669.5_Missense_Mutation_p.A370P|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	370					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)	p.A370P(2)		breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CAGCTGAAGGCCTTGCCTGGG	0.577																																						uc010nid.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1108-1110)GCC>CCC		solute carrier family 38, member 5							62.0	49.0	53.0					X																	48318223		2203	4300	6503	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48318223C>G	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1108G>C	X.37:g.48318223C>G	ENSP00000366073:p.Ala370Pro					SLC38A5_uc004djk.3_Missense_Mutation_p.A319P	p.A370P	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			15	1286	-			370			Cytoplasmic (Potential).		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.1108G>C	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	c	5.732	0.319538	0.10845	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02032	4.49;4.49;4.49	5.31	5.31	0.75309	.	0.241333	0.42294	D	0.000722	T	0.00936	0.0031	N	0.00760	-1.21	0.29091	N	0.8821	B	0.02656	0.0	B	0.10450	0.005	T	0.37957	-0.9683	10	0.02654	T	1	.	15.3895	0.74731	0.0:1.0:0.0:0.0	.	370	Q8WUX1	S38A5_HUMAN	P	370;319;370	ENSP00000366073:A370P;ENSP00000366071:A319P;ENSP00000313740:A370P	ENSP00000313740:A370P	A	-	1	0	SLC38A5	48203167	0.906000	0.30813	0.999000	0.59377	0.989000	0.77384	1.588000	0.36633	2.227000	0.72691	0.529000	0.55759	GCC		PASS	0.577	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		16	12	16	12	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50051612	50051612	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:50051612C>G	ENST00000376042.1	+	6	741	c.443C>G	c.(442-444)aCt>aGt	p.T148S	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.T148S			Q8WWL7	CCNB3_HUMAN	cyclin B3	148					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.T148S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACACCCAACACTGAGGAGGCA	0.418																																						uc004dox.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(442-444)ACT>AGT		cyclin B3 isoform 3							105.0	86.0	92.0					X																	50051612		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051612C>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.443C>G	X.37:g.50051612C>G	ENSP00000365210:p.Thr148Ser					CCNB3_uc004doy.2_Missense_Mutation_p.T148S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.T148S	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	741	+	Ovarian(276;0.236)		148					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.443C>G	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298400	0.23650	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.10382	2.88;2.88	4.17	1.46	0.22682	.	.	.	.	.	T	0.12433	0.0302	L	0.36672	1.1	0.09310	N	1	D	0.55172	0.97	P	0.51895	0.683	T	0.19289	-1.0310	8	.	.	.	.	5.6574	0.17650	0.0:0.6377:0.0:0.3623	.	148	Q8WWL7	CCNB3_HUMAN	S	148	ENSP00000365210:T148S;ENSP00000276014:T148S	.	T	+	2	0	CCNB3	50068352	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.033000	0.12246	0.173000	0.19788	0.594000	0.82650	ACT		PASS	0.418	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			22	15	22	15	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53578078	53578078	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:53578078C>A	ENST00000342160.3	-	64	9626	c.9169G>T	c.(9169-9171)Gac>Tac	p.D3057Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.D3057Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3057					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.D3057Y(1)|p.D2947Y(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCACAGGGTCCATAGGGGTG	0.547																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(9169-9171)GAC>TAC		HECT, UBA and WWE domain containing 1							122.0	107.0	112.0					X																	53578078		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53578078C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9169G>T	X.37:g.53578078C>A	ENSP00000340648:p.Asp3057Tyr					HUWE1_uc004dsn.2_Missense_Mutation_p.D1865Y	p.D3057Y	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			65	9571	-			3057					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9169G>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.317795|3.317795	0.60524|0.60524	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.74842|.	-0.88;-0.88|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.254424|.	0.37761|.	N|.	0.001949|.	D|D	0.85048|0.85048	0.5608|0.5608	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.997|.	D|D	0.87643|0.87643	0.2523|0.2523	10|5	0.87932|.	D|.	0|.	.|.	17.8502|17.8502	0.88744|0.88744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3057;3041|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Y|V	3057|2090	ENSP00000340648:D3057Y;ENSP00000262854:D3057Y|.	ENSP00000262854:D3057Y|.	D|G	-|-	1|2	0|0	HUWE1|HUWE1	53594803|53594803	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.106000|7.106000	0.77039|0.77039	2.489000|2.489000	0.83994|0.83994	0.600000|0.600000	0.82982|0.82982	GAC|GGA		PASS	0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		18	13	18	13	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65420453	65420453	+	Missense_Mutation	SNP	C	C	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:65420453C>A	ENST00000343002.2	+	11	2600	c.1936C>A	c.(1936-1938)Ctg>Atg	p.L646M	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000519389.1_Missense_Mutation_p.L700M|HEPH_ENST00000374727.3_Missense_Mutation_p.L649M|HEPH_ENST00000441993.2_Missense_Mutation_p.L649M|HEPH_ENST00000336279.5_Missense_Mutation_p.L379M			Q9BQS7	HEPH_HUMAN	hephaestin	646	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.L646M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCCTGGCACCTGCTCGGCCT	0.542																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(1945-1947)CTG>ATG		hephaestin isoform a							173.0	110.0	132.0					X																	65420453		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65420453C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1936C>A	X.37:g.65420453C>A	ENSP00000343939:p.Leu646Met					HEPH_uc004dwn.2_Missense_Mutation_p.L649M|HEPH_uc004dwo.2_Missense_Mutation_p.L379M|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.L649M|HEPH_uc010nks.2_5'Flank	p.L649M	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			12	2005	+			646			Plastocyanin-like 4.|Extracellular (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1945C>A		.	.	.	.	.	.	.	.	.	.	C	13.64	2.296689	0.40594	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99298	-5.71;-5.71;-5.71;-5.71;-5.71;-5.71	4.84	2.67	0.31697	Cupredoxin (2);	0.230857	0.36972	N	0.002319	D	0.98248	0.9420	L	0.61218	1.895	0.27561	N	0.950177	P;P	0.51057	0.941;0.701	P;B	0.47251	0.542;0.403	D	0.95421	0.8507	10	0.49607	T	0.09	.	10.4863	0.44724	0.0:0.7942:0.0:0.2058	.	700;646	E9PHN8;Q9BQS7	.;HEPH_HUMAN	M	700;649;379;649;646;603	ENSP00000430620:L700M;ENSP00000363859:L649M;ENSP00000337418:L379M;ENSP00000411687:L649M;ENSP00000343939:L646M;ENSP00000398078:L603M	ENSP00000337418:L379M	L	+	1	2	HEPH	65337178	0.940000	0.31905	1.000000	0.80357	0.994000	0.84299	0.082000	0.14847	0.845000	0.35118	0.600000	0.82982	CTG		PASS	0.542	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		6	15	6	15	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118230627	118230627	+	Missense_Mutation	SNP	C	C	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:118230627C>G	ENST00000402510.2	-	8	1095	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	366								p.D366H(1)|p.D226H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGTGAGCAATCAGGTCCAGAT	0.512																																						uc004era.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1096-1098)GAT>CAT		hypothetical protein LOC57481							67.0	71.0	69.0					X																	118230627		2050	4164	6214	SO:0001583	missense	57481							g.chrX:118230627C>G	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1096G>C	X.37:g.118230627C>G	ENSP00000384670:p.Asp366His						p.D366H	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			8	1096	-			366					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1096G>C	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748202	0.30955	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.11063	2.81	4.75	-2.71	0.05986	.	.	.	.	.	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	P	0.59012	0.85	T	0.15607	-1.0431	9	0.62326	D	0.03	.	1.7524	0.02975	0.1462:0.2318:0.1417:0.4804	.	366	Q9ULL0	K1210_HUMAN	H	366;202	ENSP00000384670:D366H	ENSP00000396164:D202H	D	-	1	0	RP13-347D8.5;RP13-347D8.6	118114655	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.875000	0.04205	-0.740000	0.04803	0.594000	0.82650	GAT		PASS	0.512	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		16	8	16	8	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122846737	122846737	+	Silent	SNP	G	G	A			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:122846737G>A	ENST00000245838.8	-	2	124	c.93C>T	c.(91-93)ctC>ctT	p.L31L	THOC2_ENST00000355725.4_Silent_p.L31L|RN7SL29P_ENST00000584278.1_RNA	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	31					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.L31L(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TATTTTCACTGAGGATCCGAC	0.279																																						uc004etu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(91-93)CTC>CTT		THO complex 2							65.0	54.0	57.0					X																	122846737		1796	4046	5842	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122846737G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.93C>T	X.37:g.122846737G>A						THOC2_uc011mui.1_5'UTR	p.L31L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			2	125	-			31					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.93C>T	CCDS43988.1																																																																																				PASS	0.279	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			13	28	13	28	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123657279	123657279	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:123657279G>C	ENST00000371130.3	-	17	3031	c.2968C>G	c.(2968-2970)Cct>Gct	p.P990A	TENM1_ENST00000422452.2_Missense_Mutation_p.P990A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	990					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P992A(1)									AGCGGTGAAGGAAGCACAATA	0.448																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(2968-2970)CCT>GCT		odz, odd Oz/ten-m homolog 1 isoform 3							163.0	145.0	151.0					X																	123657279		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123657279G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2968C>G	X.37:g.123657279G>C	ENSP00000360171:p.Pro990Ala					ODZ1_uc011muj.1_Missense_Mutation_p.P989A|ODZ1_uc010nqy.2_Missense_Mutation_p.P990A	p.P990A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			17	3032	-			990			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.2968C>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391580	0.25118	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.84589	-1.87;-1.84	5.65	5.65	0.86999	.	0.061993	0.64402	D	0.000002	T	0.73636	0.3612	N	0.25060	0.705	0.58432	D	0.999998	P;P;B	0.43431	0.807;0.702;0.045	B;B;B	0.34931	0.192;0.182;0.017	T	0.74012	-0.3801	10	0.08837	T	0.75	.	18.79	0.91969	0.0:0.0:1.0:0.0	.	989;990;990	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	990	ENSP00000360171:P990A;ENSP00000403954:P990A	ENSP00000360171:P990A	P	-	1	0	ODZ1	123484960	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.743000	0.85020	2.384000	0.81235	0.600000	0.82982	CCT		PASS	0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		37	59	37	59	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129205107	129205107	+	Missense_Mutation	SNP	G	G	C			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrX:129205107G>C	ENST00000308167.5	-	7	1096	c.717C>G	c.(715-717)ttC>ttG	p.F239L	ELF4_ENST00000335997.7_Missense_Mutation_p.F239L	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.F239L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCACCAGTTTGAAGATGCCTT	0.522			T	ERG	AML																																	uc004evd.3				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(715-717)TTC>TTG		E74-like factor 4							177.0	146.0	156.0					X																	129205107		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129205107G>C	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.717C>G	X.37:g.129205107G>C	ENSP00000311280:p.Phe239Leu					ELF4_uc004eve.3_Missense_Mutation_p.F239L	p.F239L	NM_001421	NP_001412	Q99607	ELF4_HUMAN			7	1102	-			239			ETS.			Missense_Mutation	SNP	ENST00000308167.5	37	c.717C>G	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182900	0.78677	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	D;D	0.84442	-1.85;-1.85	5.45	3.59	0.41128	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	M	0.93638	3.44	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.92846	0.6293	10	0.87932	D	0	.	8.8635	0.35272	0.2036:0.0:0.7964:0.0	.	239	Q99607	ELF4_HUMAN	L	239	ENSP00000338608:F239L;ENSP00000311280:F239L	ENSP00000311280:F239L	F	-	3	2	ELF4	129032788	0.924000	0.31332	1.000000	0.80357	0.973000	0.67179	0.107000	0.15375	1.005000	0.39183	0.513000	0.50165	TTC		PASS	0.522	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		55	97	55	97	---	---	---	---
UTY	7404	broad.mit.edu	37	Y	15448075	15448075	+	Silent	SNP	A	A	G			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chrY:15448075A>G	ENST00000331397.4	-	16	2918	c.1911T>C	c.(1909-1911)aaT>aaC	p.N637N	UTY_ENST00000382896.4_Silent_p.N682N|UTY_ENST00000538878.1_Silent_p.N604N|UTY_ENST00000540140.1_Silent_p.N634N|UTY_ENST00000362096.4_Silent_p.N637N|UTY_ENST00000537580.1_Silent_p.N558N|UTY_ENST00000329134.5_Silent_p.N637N|UTY_ENST00000545955.1_Silent_p.N712N	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	637					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)	p.N637N(2)		kidney(1)|lung(6)	7						GTGGTACTGAATTACTAGGCA	0.473																																					Colon(103;1740 2135 40732 45171)	uc004fsx.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1909-1911)AAT>AAC		tetratricopeptide repeat protein isoform 3							115.0	106.0	108.0					Y																	15448075		619	1986	2605	SO:0001819	synonymous_variant	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15448075A>G	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1911T>C	Y.37:g.15448075A>G						UTY_uc004fsw.1_Silent_p.N300N|UTY_uc010nwx.1_Intron|UTY_uc004fsy.2_Silent_p.N637N|UTY_uc004fsz.2_Silent_p.N637N	p.N637N	NM_007125	NP_009056	O14607	UTY_HUMAN			16	2916	-			637					A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Silent	SNP	ENST00000331397.4	37	c.1911T>C	CCDS14783.1																																																																																				PASS	0.473	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660		58	79	58	79	---	---	---	---
PRKCE	5581	broad.mit.edu	37	2	46237534	46237534	+	Frame_Shift_Del	DEL	T	T	-			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr2:46237534delT	ENST00000306156.3	+	10	1642	c.1315delT	c.(1315-1317)ttafs	p.L439fs	PRKCE_ENST00000394874.1_Frame_Shift_Del_p.L162fs	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TGTGAAGGTCTTAAAGAAGGA	0.443																																						uc002rut.2																			0				lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10						c.(1315-1317)TTAfs		protein kinase C, epsilon							187.0	180.0	182.0					2																	46237534		1929	3884	5813	SO:0001589	frameshift_variant	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46237534delT		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1315delT	2.37:g.46237534delT	ENSP00000306124:p.Leu439fs						p.L439fs	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		10	1512	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	439			Protein kinase.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Frame_Shift_Del	DEL	ENST00000306156.3	37	c.1315delT	CCDS1824.1																																																																																					0.443	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			106	58	106	58	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79950724	79950725	+	In_Frame_Ins	INS	-	-	CCGCAGCGC	rs70991168|rs2001675	byFrequency	TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr5:79950724_79950725insCCGCAGCGC	ENST00000265081.6	+	1	258_259	c.178_179insCCGCAGCGC	c.(178-180)gcc>gCCGCAGCGCcc	p.63_64insAAP	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000513048.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	63			Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggccgcagcggccgcagcgCCC	0.708								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2																			0				lung(2)|ovary(1)|breast(1)	4						c.(178-180)GCC>GCCGCAGCGCCC	MMR	mutS homolog 3																																				SO:0001652	inframe_insertion	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950724_79950725insCCGCAGCGC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.179_187dupCCGCAGCGC	5.37:g.79950725_79950733dupCCGCAGCGC	ENSP00000265081:p.Ala61_Pro63dup					DHFR_uc011ctl.1_5'Flank|DHFR_uc011ctm.1_5'Flank|DHFR_uc010jap.1_5'Flank|DHFR_uc003kgx.1_Intron|DHFR_uc003kgy.1_5'UTR	p.63_64insAAP	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	431_432	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	63_64		Missing.			A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Ins	INS	ENST00000265081.6	37	c.178_179insCCGCAGCGC	CCDS34195.1																																																																																					0.708	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		5	6	5	6	---	---	---	---
SUGP1	57794	broad.mit.edu	37	19	19389509	19389509	+	Frame_Shift_Del	DEL	T	T	-			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr19:19389509delT	ENST00000247001.5	-	11	1972	c.1625delA	c.(1624-1626)aagfs	p.K542fs		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	542					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTTCAGGGCCTTGAAGGTCTC	0.612																																						uc002nmh.2																			0					0						c.(1624-1626)AAGfs		splicing factor 4							38.0	32.0	34.0					19																	19389509		2203	4300	6503	SO:0001589	frameshift_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19389509delT	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1625delA	19.37:g.19389509delT	ENSP00000247001:p.Lys542fs					SF4_uc002nmf.2_Frame_Shift_Del_p.K92fs|SF4_uc002nmg.2_Frame_Shift_Del_p.K92fs|SF4_uc002nmi.2_Frame_Shift_Del_p.K332fs|SF4_uc002nmj.2_Frame_Shift_Del_p.K332fs|SF4_uc002nme.2_Frame_Shift_Del_p.K92fs	p.K542fs	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			11	1627	-			542					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Frame_Shift_Del	DEL	ENST00000247001.5	37	c.1625delA	CCDS12399.1																																																																																					0.612	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		14	8	14	8	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445798	29445820	+	Frame_Shift_Del	DEL	GGCCGACTGCCCAGGCAGCGACA	GGCCGACTGCCCAGGCAGCGACA	-			TCGA-46-6025-01A-11D-1817-08	TCGA-46-6025-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	767a9ae0-2aa4-467b-b9c3-fb3bf701b642	93bbc78d-d792-4bfe-a8b1-d7db55452cd9	g.chr22:29445798_29445820delGGCCGACTGCCCAGGCAGCGACA	ENST00000544604.2	+	8	1804_1826	c.1629_1651delGGCCGACTGCCCAGGCAGCGACA	c.(1627-1653)ctggccgactgcccaggcagcgacagcfs	p.ADCPGSDS544fs	ZNRF3_ENST00000332811.4_Frame_Shift_Del_p.ADCPGSDS444fs|ZNRF3_ENST00000406323.3_Frame_Shift_Del_p.ADCPGSDS444fs|ZNRF3_ENST00000402174.1_Frame_Shift_Del_p.ADCPGSDS444fs	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	544					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GTGGCTACCTGGCCGACTGCCCAGgcagcgacagcagcagcag	0.668																																						uc003aeg.2																			0				ovary(1)	1						c.(1327-1353)CTGGCCGACTGCCCAGGCAGCGACAGCfs		zinc and ring finger 3																																				SO:0001589	frameshift_variant	84133					integral to membrane	zinc ion binding	g.chr22:29445798_29445820delGGCCGACTGCCCAGGCAGCGACA	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1629_1651delGGCCGACTGCCCAGGCAGCGACA	22.37:g.29445798_29445820delGGCCGACTGCCCAGGCAGCGACA	ENSP00000443824:p.Ala544fs					ZNRF3_uc003aeh.1_Frame_Shift_Del_p.L443fs	p.L443fs	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	1494_1516	+			543_551			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Frame_Shift_Del	DEL	ENST00000544604.2	37	c.1329_1351delGGCCGACTGCCCAGGCAGCGACA	CCDS56225.1																																																																																					0.668	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		33	19	33	19	---	---	---	---
