#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
GRIK3	2899	broad.mit.edu	37	1	37271849	37271849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr1:37271849C>A	ENST00000373091.3	-	14	2186	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.E724*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	724					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.E724*(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGGATGCCCTCCTCGTTGTTC	0.602																																						uc001caz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2170-2172)GAG>TAG		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						137.0	115.0	122.0					1																	37271849		2203	4300	6503	SO:0001587	stop_gained	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271849C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2170G>T	1.37:g.37271849C>A	ENSP00000362183:p.Glu724*					GRIK3_uc001cba.1_Nonsense_Mutation_p.E724*	p.E724*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2305	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	724			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Nonsense_Mutation	SNP	ENST00000373091.3	37	c.2170G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	39	7.599528	0.98381	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.48	5.48	0.80851	.	0.060012	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.3336	0.94306	0.0:1.0:0.0:0.0	.	.	.	.	X	724	.	ENSP00000362183:E724X	E	-	1	0	GRIK3	37044436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.566000	0.86566	0.549000	0.68633	GAG		PASS	0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		10	54	10	54	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42049199	42049199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr1:42049199G>A	ENST00000372583.1	-	4	2155	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R424*	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	424	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R424*(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTCCTATTCGCCCACACTTG	0.607																																						uc001cgz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1270-1272)CGA>TGA		human immunodeficiency virus type I enhancer							115.0	98.0	104.0					1																	42049199		2203	4300	6503	SO:0001587	stop_gained	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049199G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1270C>T	1.37:g.42049199G>A	ENSP00000361664:p.Arg424*					HIVEP3_uc001cha.3_Nonsense_Mutation_p.R424*|HIVEP3_uc001cgy.2_RNA	p.R424*	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	2483	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	424			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	ENST00000372583.1	37	c.1270C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	39	7.542098	0.98348	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.15	-0.551	0.11822	.	0.000000	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8347	17.7526	0.88439	0.0:0.0:0.1901:0.8099	.	.	.	.	X	424	.	ENSP00000247584:R424X	R	-	1	2	HIVEP3	41821786	0.382000	0.25148	0.681000	0.30009	0.022000	0.10575	0.900000	0.28431	-0.242000	0.09667	0.655000	0.94253	CGA		PASS	0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		6	67	6	67	---	---	---	---
CYP4A22	284541	broad.mit.edu	37	1	47614361	47614361	+	Silent	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr1:47614361C>T	ENST00000371891.3	+	12	1483	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.P386P|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	484						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P484P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCCTGATCCCACCAGGATCC	0.577																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1450-1452)CCC>CCT		cytochrome P450, family 4, subfamily A,							120.0	114.0	116.0					1																	47614361		2203	4300	6503	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47614361C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1452C>T	1.37:g.47614361C>T							p.P484P	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			12	1503	+			484					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.1452C>T	CCDS30707.1																																																																																				PASS	0.577	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		12	104	12	104	---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48705040	48705040	+	Missense_Mutation	SNP	G	G	A	rs201842032		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr1:48705040G>A	ENST00000438567.2	+	12	1560	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	SLC5A9_ENST00000236495.5_Missense_Mutation_p.R528H|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R524H	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	503					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R521H(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GGGCTTCTGCGTATGATCCTG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17215	0.001		0.0	False		,,,				2504	0.0					uc001cro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1507-1509)CGT>CAT		solute carrier family 5 (sodium/glucose							146.0	143.0	144.0					1																	48705040		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48705040G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1508G>A	1.37:g.48705040G>A	ENSP00000401730:p.Arg503His					SLC5A9_uc001crn.2_Missense_Mutation_p.R528H|SLC5A9_uc010omt.1_Missense_Mutation_p.R517H|SLC5A9_uc001crp.2_Missense_Mutation_p.R170H|SLC5A9_uc010omu.1_Missense_Mutation_p.R170H|SLC5A9_uc009vyt.1_RNA	p.R503H	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			12	1560	+			503			Helical; (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.1508G>A	CCDS30709.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.6	4.432821	0.83776	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	T;T;T	0.65178	-0.14;-0.14;-0.14	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.91300	3.195	0.80722	D	1	P;P;P	0.44478	0.836;0.746;0.746	B;B;B	0.36504	0.139;0.226;0.226	T	0.80243	-0.1463	10	0.87932	D	0	.	17.85	0.88744	0.0:0.0:1.0:0.0	.	524;503;528	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	H	524;503;528	ENSP00000431900:R524H;ENSP00000401730:R503H;ENSP00000236495:R528H	ENSP00000236495:R528H	R	+	2	0	SLC5A9	48477627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.599000	0.82757	2.682000	0.91365	0.650000	0.86243	CGT		PASS	0.597	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		21	83	21	83	---	---	---	---
C8A	731	broad.mit.edu	37	1	57372362	57372362	+	Silent	SNP	G	G	A	rs147666641	byFrequency	TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr1:57372362G>A	ENST00000361249.3	+	8	1215	c.1119G>A	c.(1117-1119)acG>acA	p.T373T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	373	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.T373T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGATATCACGACATGTTTTG	0.393																																						uc001cyo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1117-1119)ACG>ACA		complement component 8, alpha polypeptide		G		6,4400	11.4+/-27.6	0,6,2197	154.0	152.0	153.0		1119	-0.9	0.0	1	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	C8A	NM_000562.2		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		373/585	57372362	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57372362G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1119G>A	1.37:g.57372362G>A							p.T373T	NM_000562	NP_000553	P07357	CO8A_HUMAN			8	1251	+			373			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.1119G>A	CCDS606.1																																																																																				PASS	0.393	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		20	90	20	90	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037915	75037915	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr1:75037915G>A	ENST00000326665.5	-	14	3697	c.3479C>T	c.(3478-3480)aCg>aTg	p.T1160M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1160	Glu-rich.							p.T1160M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAATCCAGGCGTTGCTTCAAA	0.473																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3478-3480)ACG>ATG		hypothetical protein LOC127254							78.0	80.0	80.0					1																	75037915		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037915G>A																												ENST00000326665.5:c.3479C>T	1.37:g.75037915G>A	ENSP00000322609:p.Thr1160Met						p.T1160M	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3698	-			1160			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3479C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584055	0.46110	.	.	ENSG00000178965	ENST00000326665	T	0.13778	2.56	4.77	1.52	0.23074	.	.	.	.	.	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	D	0.52996	0.957	P	0.48598	0.583	T	0.25187	-1.0139	9	0.48119	T	0.1	-1.0559	0.7705	0.01023	0.2045:0.148:0.369:0.2785	.	1160	Q5RHP9	CA173_HUMAN	M	1160	ENSP00000322609:T1160M	ENSP00000322609:T1160M	T	-	2	0	C1orf173	74810503	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.053000	0.14184	0.409000	0.25649	0.561000	0.74099	ACG		PASS	0.473	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	95	6	95	---	---	---	---
DNAJB4	11080	broad.mit.edu	37	1	78479055	78479055	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr1:78479055C>T	ENST00000370763.5	+	2	789	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	178					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.R178W(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TTGTACCAAACGGATGAAGAT	0.408																																						uc001dij.2																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)CGG>TGG		DnaJ (Hsp40) homolog, subfamily B, member 4							101.0	105.0	104.0					1																	78479055		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78479055C>T	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.532C>T	1.37:g.78479055C>T	ENSP00000359799:p.Arg178Trp					DNAJB4_uc010orn.1_Missense_Mutation_p.R63W	p.R178W	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			2	691	+			178					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.532C>T	CCDS684.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318248	0.81469	.	.	ENSG00000162616	ENST00000370763	D	0.82711	-1.64	5.33	5.33	0.75918	HSP40/DnaJ peptide-binding (1);	0.048030	0.85682	D	0.000000	D	0.90215	0.6941	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.91867	0.5504	10	0.87932	D	0	.	12.2671	0.54684	0.2873:0.7127:0.0:0.0	.	178	Q9UDY4	DNJB4_HUMAN	W	178	ENSP00000359799:R178W	ENSP00000359799:R178W	R	+	1	2	DNAJB4	78251643	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	2.225000	0.42954	2.476000	0.83614	0.650000	0.86243	CGG		PASS	0.408	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			4	90	4	90	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24928059	24928059	+	Missense_Mutation	SNP	C	C	T	rs544237906		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr2:24928059C>T	ENST00000406961.1	+	12	1706	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	NCOA1_ENST00000395856.3_Missense_Mutation_p.P352S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P201S|NCOA1_ENST00000538539.1_Missense_Mutation_p.P352S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P352S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P352S|NCOA1_ENST00000405141.1_Missense_Mutation_p.P352S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	352					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.P352S(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCAAAGTCCAGACATGCA	0.428			T	PAX3	alveolar rhadomyosarcoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		18636	0.001		0.0	False		,,,				2504	0.0					uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - Missense(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1054-1056)CCA>TCA		nuclear receptor coactivator 1 isoform 1							125.0	118.0	120.0					2																	24928059		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24928059C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1054C>T	2.37:g.24928059C>T	ENSP00000385216:p.Pro352Ser					NCOA1_uc010eye.2_Missense_Mutation_p.P352S|NCOA1_uc002rfi.2_Missense_Mutation_p.P201S|NCOA1_uc002rfj.2_Missense_Mutation_p.P352S|NCOA1_uc002rfl.2_Missense_Mutation_p.P352S	p.P352S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			10	1312	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		352					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1054C>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834556	0.50951	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.76	4.88	0.63580	.	0.047135	0.85682	D	0.000000	T	0.31389	0.0795	L	0.39898	1.24	0.80722	D	1	D;B;P;B	0.89917	1.0;0.107;0.857;0.337	D;B;P;B	0.87578	0.998;0.078;0.847;0.205	T	0.04607	-1.0939	10	0.13470	T	0.59	.	16.8581	0.86010	0.0:0.8713:0.1287:0.0	.	352;352;352;201	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	S	352;352;201;352;352;352;352	ENSP00000385216:P352S;ENSP00000385097:P352S;ENSP00000385195:P201S;ENSP00000444039:P352S;ENSP00000320940:P352S;ENSP00000288599:P352S;ENSP00000379197:P352S	ENSP00000288599:P352S	P	+	1	0	NCOA1	24781563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.261000	0.65496	1.551000	0.49450	0.650000	0.86243	CCA		PASS	0.428	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		5	122	5	122	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656545	40656545	+	Silent	SNP	G	G	A	rs201010344		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr2:40656545G>A	ENST00000403092.1	-	2	909	c.876C>T	c.(874-876)gaC>gaT	p.D292D	SLC8A1_ENST00000332839.4_Silent_p.D292D|SLC8A1_ENST00000405269.1_Silent_p.D292D|SLC8A1_ENST00000406785.2_Silent_p.D292D|SLC8A1_ENST00000408028.2_Silent_p.D292D|SLC8A1_ENST00000406391.2_Silent_p.D292D|SLC8A1_ENST00000542756.1_Silent_p.D292D|SLC8A1_ENST00000405901.3_Silent_p.D292D|SLC8A1_ENST00000402441.1_Silent_p.D292D|SLC8A1_ENST00000542024.1_Silent_p.D292D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	292					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.D292D(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCACTTTCCCGTCCATTTCAA	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19811	0.0		0.0	False		,,,				2504	0.0					uc002rrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(874-876)GAC>GAT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	G	,,,	0,4406		0,0,2203	171.0	176.0	175.0		876,876,876,876	1.0	1.0	2		175	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC8A1	NM_001112800.1,NM_001112801.1,NM_001112802.1,NM_021097.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	292/969,292/961,292/938,292/974	40656545	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656545G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.876C>T	2.37:g.40656545G>A						SLC8A1_uc002rry.2_Silent_p.D292D|SLC8A1_uc002rrz.2_Silent_p.D292D|SLC8A1_uc002rsa.2_Silent_p.D292D|SLC8A1_uc002rsd.3_Silent_p.D292D|SLC8A1_uc002rsb.1_Silent_p.D292D|SLC8A1_uc010fan.1_Silent_p.D292D|SLC8A1_uc002rsc.1_Silent_p.D292D	p.D292D	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	900	-			292			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.876C>T	CCDS1806.1																																																																																				PASS	0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		37	221	37	221	---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130951985	130951985	+	Missense_Mutation	SNP	C	C	T	rs371431005		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr2:130951985C>T	ENST00000312988.7	-	4	530	c.430G>A	c.(430-432)Ggc>Agc	p.G144S		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	144					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G144S(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GAGCCAGTGCCGCCCCCAAAG	0.577																																						uc002tqv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(430-432)GGC>AGC		tubulin, alpha 3e		C	SER/GLY	1,4403		0,1,2201	34.0	35.0	35.0		430	2.7	1.0	2		35	0,8592		0,0,4296	no	missense	TUBA3E	NM_207312.2	56	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	144/451	130951985	1,12995	2202	4296	6498	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951985C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.430G>A	2.37:g.130951985C>T	ENSP00000318197:p.Gly144Ser						p.G144S	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	531	-	Colorectal(110;0.1)		144			GTP (Potential).			Missense_Mutation	SNP	ENST00000312988.7	37	c.430G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	16.32	3.089789	0.55968	2.27E-4	0.0	ENSG00000152086	ENST00000312988	D	0.89270	-2.49	2.71	2.71	0.32032	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.50627	U	0.000108	D	0.96503	0.8859	H	0.99182	4.46	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.96527	0.9390	10	0.87932	D	0	.	11.1953	0.48709	0.0:1.0:0.0:0.0	.	144	Q6PEY2	TBA3E_HUMAN	S	144	ENSP00000318197:G144S	ENSP00000318197:G144S	G	-	1	0	TUBA3E	130668455	1.000000	0.71417	0.988000	0.46212	0.926000	0.56050	6.428000	0.73383	1.540000	0.49301	0.449000	0.29647	GGC		PASS	0.577	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		15	45	15	45	---	---	---	---
SLC40A1	30061	broad.mit.edu	37	2	190437668	190437668	+	Silent	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr2:190437668C>A	ENST00000261024.2	-	4	717	c.291G>T	c.(289-291)gtG>gtT	p.V97V	SLC40A1_ENST00000418714.1_5'Flank	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	97					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)	p.V97V(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CATTCTGTACCACCAGCGAGG	0.428																																						uc002uqp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(289-291)GTG>GTT		solute carrier family 40 (iron-regulated							97.0	91.0	93.0					2																	190437668		2203	4300	6503	SO:0001819	synonymous_variant	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190437668C>A	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.291G>T	2.37:g.190437668C>A						SLC40A1_uc002uqq.2_Silent_p.V97V	p.V97V	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		4	642	-			97			Helical; (Potential).		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	c.291G>T	CCDS2299.1																																																																																				PASS	0.428	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			4	92	4	92	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238274445	238274445	+	Missense_Mutation	SNP	C	C	T	rs113251155		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr2:238274445C>T	ENST00000295550.4	-	12	6186	c.5734G>A	c.(5734-5736)Gag>Aag	p.E1912K	COL6A3_ENST00000409809.1_Missense_Mutation_p.E1706K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1706K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1305K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1711K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1712K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1912	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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.E1912Q(1)|p.E1912K(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)		CGGAACTTCTCGAGCATCTCT	0.632																																						uc002vwl.2																			2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(5734-5736)GAG>AAG		alpha 3 type VI collagen isoform 1 precursor		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	81.0	76.0	77.0		5734,3913,5116	5.3	1.0	2	dbSNP_132	77	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1912/3178,1305/2571,1706/2972	238274445	1,13005	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.chr2:238274445C>T	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.5734G>A	2.37:g.238274445C>T	ENSP00000295550:p.Glu1912Lys					COL6A3_uc002vwo.2_Missense_Mutation_p.E1706K|COL6A3_uc010znj.1_Missense_Mutation_p.E1305K	p.E1912K	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)	12	6019	-		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)	1912			VWFA 10.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5734G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496077	0.44352	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.34	5.34	0.76211	von Willebrand factor, type A (2);	0.404453	0.20607	N	0.089045	T	0.44117	0.1278	L	0.41079	1.255	0.47698	D	0.999495	D;D;P	0.76494	0.995;0.999;0.909	P;P;B	0.59889	0.546;0.865;0.084	T	0.06463	-1.0825	10	0.23302	T	0.38	.	12.7377	0.57234	0.0:0.9246:0.0:0.0754	.	1305;1706;1912	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	K	1912;1711;1706;1305;1706;1712	ENSP00000295550:E1912K;ENSP00000315609:E1711K;ENSP00000315873:E1706K;ENSP00000418285:E1305K;ENSP00000386844:E1706K;ENSP00000295546:E1712K	ENSP00000295550:E1912K	E	-	1	0	COL6A3	237939184	0.998000	0.40836	0.981000	0.43875	0.686000	0.39977	3.641000	0.54360	2.665000	0.90641	0.655000	0.94253	GAG		PASS	0.632	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		7	69	7	69	---	---	---	---
BOK	666	broad.mit.edu	37	2	242511723	242511723	+	Silent	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr2:242511723C>T	ENST00000318407.3	+	5	827	c.525C>T	c.(523-525)ctC>ctT	p.L175L		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	175					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell proliferation (GO:0008283)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|neuron apoptotic process (GO:0051402)|oligodendrocyte differentiation (GO:0048709)|positive regulation of apoptotic process (GO:0043065)|positive regulation of execution phase of apoptosis (GO:1900119)	cytoplasm (GO:0005737)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L175L(1)		large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		CTGATGTCCTCAAGTGTGTGG	0.652																																						uc002wbq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(523-525)CTC>CTT		BCL2-related ovarian killer							70.0	55.0	60.0					2																	242511723		2203	4300	6503	SO:0001819	synonymous_variant	666				activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		g.chr2:242511723C>T	AF174487	CCDS2550.1	2q37.3	2008-05-22			ENSG00000176720	ENSG00000176720			1087	protein-coding gene	gene with protein product		605404				9356461, 11034351, 15102863	Standard	NM_032515		Approved	BCL2L9, BOKL, MGC4631	uc002wbq.3	Q9UMX3	OTTHUMG00000133411	ENST00000318407.3:c.525C>T	2.37:g.242511723C>T						BOK_uc002wbr.2_5'Flank	p.L175L	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)	5	771	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	175			BH2.			Silent	SNP	ENST00000318407.3	37	c.525C>T	CCDS2550.1																																																																																				PASS	0.652	BOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257268.2	NM_032515		4	20	4	20	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101390091	101390091	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr3:101390091C>T	ENST00000312938.4	-	3	1241	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	ZBTB11_ENST00000461821.1_3'UTR	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	221	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.E221K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTTCTCCTTCAATTAACAAA	0.383																																						uc003dve.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(661-663)GAA>AAA		zinc finger protein ZNF-U69274							118.0	122.0	121.0					3																	101390091		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101390091C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.661G>A	3.37:g.101390091C>T	ENSP00000326200:p.Glu221Lys					ZBTB11_uc003dvf.2_3'UTR	p.E221K	NM_014415	NP_055230	O95625	ZBT11_HUMAN			3	891	-			221			BTB.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.661G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687408	0.96784	.	.	ENSG00000066422	ENST00000312938	T	0.72051	-0.62	5.62	5.62	0.85841	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85425	0.1145	10	0.87932	D	0	-23.011	19.6604	0.95864	0.0:1.0:0.0:0.0	.	221	O95625	ZBT11_HUMAN	K	221	ENSP00000326200:E221K	ENSP00000326200:E221K	E	-	1	0	ZBTB11	102872781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.648000	0.89879	0.655000	0.94253	GAA		PASS	0.383	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		15	103	15	103	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23526956	23526956	+	Silent	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr5:23526956C>A	ENST00000296682.3	+	11	1941	c.1759C>A	c.(1759-1761)Cgg>Agg	p.R587R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	587					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R587R(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.607										HNSCC(3;0.000094)																												uc003jgo.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1759-1761)CGG>AGG		PR domain containing 9							45.0	51.0	49.0					5																	23526956		2174	4277	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526956C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1759C>A	5.37:g.23526956C>A		HNSCC(3;0.000094)					p.R587R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1941	+			587			C2H2-type 4.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1759C>A	CCDS43307.1																																																																																				PASS	0.607	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		7	105	7	105	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79950593	79950593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr5:79950593C>A	ENST00000265081.6	+	1	127	c.47C>A	c.(46-48)tCa>tAa	p.S16*	DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	16					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)	p.S16*(1)		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)		GCCTCCAGCTCAGCCCCTGCG	0.687								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|ovary(1)|breast(1)	4						c.(46-48)TCA>TAA	MMR	mutS homolog 3							27.0	25.0	26.0					5																	79950593		2199	4295	6494	SO:0001587	stop_gained	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.chr5:79950593C>A	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.47C>A	5.37:g.79950593C>A	ENSP00000265081:p.Ser16*					DHFR_uc011ctl.1_5'UTR|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Nonsense_Mutation_p.E55*|DHFR_uc003kgy.1_5'UTR	p.S16*	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	300	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	16					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	c.47C>A	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168341	0.94768	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	4.63	4.63	0.57726	.	0.416617	0.17866	N	0.159379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3894	12.8356	0.57771	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	.	S	+	2	0	MSH3	79986349	0.066000	0.20996	0.625000	0.29200	0.051000	0.14879	2.304000	0.43655	2.386000	0.81285	0.467000	0.42956	TCA		PASS	0.687	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		3	26	3	26	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222774	140222774	+	Missense_Mutation	SNP	G	G	A	rs200720426		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr5:140222774G>A	ENST00000531613.1	+	1	1868	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R623H|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	623	Cadherin 6. {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.R623H(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCGTTCCGCGTGGGGCTG	0.642																																						uc003lhs.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1867-1869)CGC>CAC		protocadherin alpha 8 isoform 1 precursor							99.0	98.0	99.0					5																	140222774		2198	4271	6469	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222774G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1868G>A	5.37:g.140222774G>A	ENSP00000434655:p.Arg623His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R623H	p.R623H	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1868	+			623			Cadherin 6.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1868G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719768	0.30503	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.55413	0.52;0.52	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.32533	U	0.005979	T	0.48132	0.1483	M	0.75615	2.305	0.25180	N	0.990217	P;P	0.41748	0.469;0.761	B;B	0.35278	0.12;0.199	T	0.53851	-0.8380	10	0.66056	D	0.02	.	10.5457	0.45058	0.0:0.1973:0.8027:0.0	.	623;623	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	623	ENSP00000434655:R623H;ENSP00000367363:R623H	ENSP00000367363:R623H	R	+	2	0	PCDHA8	140202958	0.000000	0.05858	0.998000	0.56505	0.072000	0.16883	0.223000	0.17719	1.624000	0.50355	0.313000	0.20887	CGC		PASS	0.642	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		9	110	9	110	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176305332	176305332	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr5:176305332C>T	ENST00000329542.4	+	12	2231	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	UNC5A_ENST00000261961.3_Missense_Mutation_p.R613C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	653					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R653C(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAACCTGCGCCTATCCAT	0.627																																						uc003mey.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1957-1959)CGC>TGC		netrin receptor Unc5h1 precursor							95.0	96.0	96.0					5																	176305332		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176305332C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1957C>T	5.37:g.176305332C>T	ENSP00000332737:p.Arg653Cys						p.R653C	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	2149	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	653			Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1957C>T	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873797	0.72180	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.48522	0.81;1.14	5.14	5.14	0.70334	.	0.126153	0.53938	D	0.000046	T	0.58409	0.2120	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.53500	-0.8430	10	0.33141	T	0.24	-39.125	18.789	0.91966	0.0:1.0:0.0:0.0	.	653	Q6ZN44	UNC5A_HUMAN	C	653;613	ENSP00000332737:R653C;ENSP00000261961:R613C	ENSP00000261961:R613C	R	+	1	0	UNC5A	176237938	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.569000	0.60865	2.677000	0.91161	0.491000	0.48974	CGC		PASS	0.627	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		10	55	10	55	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155577880	155577880	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr6:155577880G>T	ENST00000461783.3	+	29	6004	c.4731G>T	c.(4729-4731)caG>caT	p.Q1577H	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1601H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q502H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1577H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q889H|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1606H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1606H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q921H|TIAM2_ENST00000367174.2_Missense_Mutation_p.Q953H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1577					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1577H(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACCACCGTCAGACTGTGAAGC	0.537																																						uc003qqb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(4729-4731)CAG>CAT		T-cell lymphoma invasion and metastasis 2							64.0	66.0	65.0					6																	155577880		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155577880G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4731G>T	6.37:g.155577880G>T	ENSP00000437188:p.Gln1577His					TIAM2_uc003qqe.2_Missense_Mutation_p.Q1577H|TIAM2_uc010kjj.2_Missense_Mutation_p.Q1139H|TIAM2_uc003qqf.2_Missense_Mutation_p.Q953H|TIAM2_uc011efl.1_Missense_Mutation_p.Q921H|TIAM2_uc003qqg.2_Missense_Mutation_p.Q889H|TIAM2_uc003qqh.2_Missense_Mutation_p.Q502H|uc003qqi.1_5'Flank	p.Q1577H	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	29	6004	+		Ovarian(120;0.196)	1577					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4731G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	6.102	0.387113	0.11581	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08193	3.58;3.52;3.58;3.4;3.58;3.52;3.4;3.4;3.12	5.73	-0.78	0.10969	.	0.494670	0.23498	N	0.047525	T	0.01695	0.0054	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.001;0.001	B;B;B;B	0.11329	0.002;0.006;0.006;0.003	T	0.45833	-0.9234	10	0.25106	T	0.35	.	8.8666	0.35289	0.1823:0.2957:0.522:0.0	.	921;1606;1601;1577	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1577;1823;1606;1577;953;1601;1606;889;921;502	ENSP00000437188:Q1577H;ENSP00000407746:Q1606H;ENSP00000327315:Q1577H;ENSP00000356142:Q953H;ENSP00000353528:Q1601H;ENSP00000433348:Q1606H;ENSP00000407183:Q889H;ENSP00000435335:Q921H;ENSP00000275246:Q502H	ENSP00000275246:Q502H	Q	+	3	2	TIAM2	155619572	0.000000	0.05858	0.000000	0.03702	0.450000	0.32258	0.223000	0.17719	-0.437000	0.07243	-0.813000	0.03139	CAG		PASS	0.537	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		16	49	16	49	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129122858	129122858	+	Missense_Mutation	SNP	G	G	A	rs372192438		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr7:129122858G>A	ENST00000249344.2	+	20	2265	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	STRIP2_ENST00000435494.2_Missense_Mutation_p.R742H|RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	742					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R742H(2)									GTGCGTCACCGCATGAACGAT	0.448																																						uc011koy.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(2224-2226)CGC>CAC		hypothetical protein LOC57464 isoform a		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	70.0	74.0		2225,2225	5.3	1.0	7		74	0,8600		0,0,4300	no	missense,missense	FAM40B	NM_001134336.1,NM_020704.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	742/759,742/835	129122858	1,13005	2203	4300	6503	SO:0001583	missense	57464							g.chr7:129122858G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2225G>A	7.37:g.129122858G>A	ENSP00000249344:p.Arg742His					FAM40B_uc003vow.2_Missense_Mutation_p.R742H|FAM40B_uc011koz.1_Missense_Mutation_p.R234H	p.R742H	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			20	2265	+			742					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.2225G>A	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729324	0.89390	2.27E-4	0.0	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.49432	0.78;0.79	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.887	T	0.65899	-0.6056	10	0.41790	T	0.15	-17.8589	18.3428	0.90311	0.0:0.0:1.0:0.0	.	742;742	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	H	742	ENSP00000249344:R742H;ENSP00000392393:R742H	ENSP00000249344:R742H	R	+	2	0	FAM40B	128910094	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.797000	0.99108	2.662000	0.90505	0.655000	0.94253	CGC		PASS	0.448	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		4	67	4	67	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138601663	138601663	+	Silent	SNP	G	G	A	rs201768497		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr7:138601663G>A	ENST00000422774.1	-	2	2757	c.2709C>T	c.(2707-2709)gaC>gaT	p.D903D	KIAA1549_ENST00000440172.1_Silent_p.D903D|KIAA1549_ENST00000242365.4_Silent_p.D853D			Q9HCM3	K1549_HUMAN	KIAA1549	903						integral component of membrane (GO:0016021)		p.D903D(1)|p.D853D(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GACTTGCGGCGTCACCCATCA	0.622			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 - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(2707-2709)GAC>GAT		hypothetical protein LOC57670 isoform 1							33.0	39.0	37.0					7																	138601663		2132	4229	6361	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138601663G>A		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.2709C>T	7.37:g.138601663G>A						KIAA1549_uc003vuk.3_Silent_p.D853D|KIAA1549_uc011kqj.1_Silent_p.D903D	p.D903D	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	2758	-			903					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.2709C>T	CCDS56513.1																																																																																				PASS	0.622	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			5	25	5	25	---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54682288	54682288	+	Nonsense_Mutation	SNP	G	G	C	rs113474015		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr8:54682288G>C	ENST00000359530.2	-	11	1328	c.1065C>G	c.(1063-1065)taC>taG	p.Y355*	ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.Y355*|ATP6V1H_ENST00000355221.3_Nonsense_Mutation_p.Y337*|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.Y315*|ATP6V1H_ENST00000523899.1_5'Flank	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	355					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.Y337*(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTTCTGAACTGTATTCATCAA	0.313																																						uc003xrl.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1063-1065)TAC>TAG		ATPase, H+ transporting, lysosomal 50/57kDa, V1							65.0	64.0	64.0					8																	54682288		2202	4298	6500	SO:0001587	stop_gained	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54682288G>C	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1065C>G	8.37:g.54682288G>C	ENSP00000352522:p.Tyr355*					ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.Y315*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.Y355*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.Y337*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.Y275*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.Y291*	p.Y355*	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		11	1217	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	355					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Nonsense_Mutation	SNP	ENST00000359530.2	37	c.1065C>G	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	G	37	6.338656	0.97485	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.02	1.22	0.21188	.	0.055023	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9855	10.2836	0.43554	0.3065:0.0:0.6935:0.0	.	.	.	.	X	337;315;355;355	.	ENSP00000347359:Y337X	Y	-	3	2	ATP6V1H	54844841	1.000000	0.71417	0.997000	0.53966	0.786000	0.44442	1.697000	0.37784	-0.055000	0.13244	0.195000	0.17529	TAC		PASS	0.313	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		11	46	11	46	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641065	122641065	+	Silent	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr8:122641065C>T	ENST00000303924.4	-	2	1053	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	172					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.T172T(2)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGACCAATTGCGTTACGTGTT	0.458																																						uc003yph.2																		HAS2/PLAG1(10)	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	soft_tissue(10)|ovary(5)	15						c.(514-516)ACG>ACA		hyaluronan synthase 2							357.0	310.0	326.0					8																	122641065		2203	4300	6503	SO:0001819	synonymous_variant	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641065C>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.516G>A	8.37:g.122641065C>T							p.T172T	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1054	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		172			Cytoplasmic (Potential).		Q32MM3	Silent	SNP	ENST00000303924.4	37	c.516G>A	CCDS6335.1																																																																																				PASS	0.458	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		38	327	38	327	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143999120	143999120	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr8:143999120C>T	ENST00000323110.2	-	1	139	c.137G>A	c.(136-138)gGc>gAc	p.G46D		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	46					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.G46D(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CCACCTGTTGCCTGGATGCTG	0.647									Familial Hyperaldosteronism type I																													uc003yxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)GGC>GAC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						82.0	74.0	77.0					8																	143999120		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999120C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.137G>A	8.37:g.143999120C>T	ENSP00000325822:p.Gly46Asp						p.G46D	NM_000498	NP_000489	P19099	C11B2_HUMAN			1	140	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		46					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.137G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281420	0.23392	.	.	ENSG00000179142	ENST00000323110	T	0.75477	-0.94	3.48	1.61	0.23674	.	0.697682	0.11639	U	0.543946	T	0.65460	0.2693	L	0.48877	1.53	0.27435	N	0.953899	B	0.16166	0.016	B	0.25405	0.06	T	0.56105	-0.8034	10	0.40728	T	0.16	.	6.4345	0.21815	0.0:0.7039:0.1863:0.1098	.	46	P19099	C11B2_HUMAN	D	46	ENSP00000325822:G46D	ENSP00000325822:G46D	G	-	2	0	CYP11B2	143996122	0.272000	0.24172	0.040000	0.18447	0.001000	0.01503	0.655000	0.24933	0.281000	0.22233	-0.878000	0.02970	GGC		PASS	0.647	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			11	93	11	93	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5988344	5988344	+	Splice_Site	SNP	C	C	G			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr9:5988344C>G	ENST00000399933.3	-	2	794		c.e2+1		KIAA2026_ENST00000381461.2_Splice_Site	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026									p.?(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTAACATTTACCTTTTTTCTT	0.353																																						uc003zjq.3																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e2+1		hypothetical protein LOC158358							60.0	58.0	58.0					9																	5988344		1825	4061	5886	SO:0001630	splice_region_variant	158358							g.chr9:5988344C>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.794+1G>C	9.37:g.5988344C>G							p.R265_splice	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	2	1010	-		Acute lymphoblastic leukemia(23;0.158)						A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Splice_Site	SNP	ENST00000399933.3	37	c.794_splice		.	.	.	.	.	.	.	.	.	.	C	17.03	3.283744	0.59867	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1882	0.89798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA2026	5978344	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.565000	0.73974	2.381000	0.81170	0.484000	0.47621	.		PASS	0.353	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	Intron	3	52	3	52	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16419078	16419078	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr9:16419078C>A	ENST00000380672.4	-	7	3266	c.3209G>T	c.(3208-3210)tGc>tTc	p.C1070F	BNC2_ENST00000545497.1_Missense_Mutation_p.C975F|BNC2_ENST00000380667.2_Missense_Mutation_p.C1003F	NM_017637.5	NP_060107.3			basonuclin 2									p.C1070F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CATCATATTGCAACCTGGGAC	0.433																																						uc003zml.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3208-3210)TGC>TTC		basonuclin 2							130.0	116.0	121.0					9																	16419078		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419078C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.3209G>T	9.37:g.16419078C>A	ENSP00000370047:p.Cys1070Phe					BNC2_uc011lmw.1_Missense_Mutation_p.C975F|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.C857F	p.C1070F	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	3349	-			1070			C2H2-type 4.			Missense_Mutation	SNP	ENST00000380672.4	37	c.3209G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371844	0.61624	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.73152	0.27;-0.72;-0.72	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.83889	0.5352	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.998	D;D;D	0.83275	0.996;0.986;0.987	D	0.83678	0.0170	10	0.87932	D	0	-13.4555	20.6721	0.99693	0.0:1.0:0.0:0.0	.	975;1070;835	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	F	1070;1003;975	ENSP00000370047:C1070F;ENSP00000370042:C1003F;ENSP00000444640:C975F	ENSP00000370042:C1003F	C	-	2	0	BNC2	16409078	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	TGC		PASS	0.433	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		103	45	103	45	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					uc003zoe.2				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)		lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	lung(2)|ovary(1)	3						c.(499-501)AGT>AGC		myeloid/lymphoid or mixed-lineage leukemia							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	p.S167S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	760	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				PASS	0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	35	3	35	---	---	---	---
SYK	6850	broad.mit.edu	37	9	93639979	93639979	+	Silent	SNP	C	C	T	rs201416422		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr9:93639979C>T	ENST00000375754.4	+	10	1456	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	SYK_ENST00000375747.1_Silent_p.I413I|SYK_ENST00000375746.1_Silent_p.I436I|SYK_ENST00000375751.4_Silent_p.I413I	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.I436I(1)|p.I413I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCGGATGATCGGGATATGCG	0.502			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.2				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		2	Substitution - coding silent(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1306-1308)ATC>ATT		spleen tyrosine kinase isoform 1							133.0	115.0	121.0					9																	93639979		2203	4300	6503	SO:0001819	synonymous_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93639979C>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1308C>T	9.37:g.93639979C>T						SYK_uc004ara.2_Silent_p.I413I|SYK_uc004arb.2_Silent_p.I413I|SYK_uc004arc.2_Silent_p.I436I|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.I436I	NM_003177	NP_003168	P43405	KSYK_HUMAN			10	1513	+			436			Protein kinase.			Silent	SNP	ENST00000375754.4	37	c.1308C>T	CCDS6688.1																																																																																				PASS	0.502	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			14	77	14	77	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	128001281	128001281	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr9:128001281A>G	ENST00000324460.6	-	5	1138	c.935T>C	c.(934-936)tTc>tCc	p.F312S	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	312					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.F312S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCCTTCATAGAAGGACTCAAT	0.458										Prostate(1;0.17)																												uc004bpn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(934-936)TTC>TCC		heat shock 70kDa protein 5	Antihemophilic Factor(DB00025)						58.0	59.0	58.0					9																	128001281		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001281A>G		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.935T>C	9.37:g.128001281A>G	ENSP00000324173:p.Phe312Ser	Prostate(1;0.17)					p.F312S	NM_005347	NP_005338	P11021	GRP78_HUMAN			5	1191	-			312					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.935T>C	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363310	0.82353	.	.	ENSG00000044574	ENST00000324460	T	0.01043	5.41	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01218	-1.1415	10	0.87932	D	0	-10.8094	12.6136	0.56563	1.0:0.0:0.0:0.0	.	312	P11021	GRP78_HUMAN	S	312	ENSP00000324173:F312S	ENSP00000324173:F312S	F	-	2	0	HSPA5	127041102	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	1.571000	0.49722	0.379000	0.24179	TTC		PASS	0.458	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			21	59	21	59	---	---	---	---
OBP2A	29991	broad.mit.edu	37	9	138439807	138439807	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr9:138439807G>A	ENST00000539850.1	+	4	394	c.368G>A	c.(367-369)cGc>cAc	p.R123H	OBP2A_ENST00000340780.3_Missense_Mutation_p.R123H|OBP2A_ENST00000371776.1_Missense_Mutation_p.R123H|OBP2A_ENST00000342114.4_Silent_p.A78A			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	123					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.R123H(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGGGGCCTGCGCTACATGGGA	0.617																																						uc004cgb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CGC>CAC		odorant binding protein 2A precursor							42.0	38.0	39.0					9																	138439807		2203	4300	6503	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138439807G>A	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.368G>A	9.37:g.138439807G>A	ENSP00000441028:p.Arg123His					OBP2A_uc004cgc.2_Missense_Mutation_p.R123H|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Silent_p.A78A	p.R123H	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	4	410	+			123					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.368G>A	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	g	3.543	-0.093257	0.07053	.	.	ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850	T;T;T	0.11604	2.76;2.99;2.99	2.25	1.08	0.20341	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.620130	0.03800	N	0.264331	T	0.04497	0.0123	N	0.03608	-0.345	0.09310	N	1	P;B	0.50710	0.938;0.001	B;B	0.39590	0.304;0.0	T	0.25082	-1.0142	10	0.16420	T	0.52	-12.4885	5.4402	0.16504	0.0:0.0:0.2947:0.7053	.	123;123	Q5T8A5;Q9NY56	.;OBP2A_HUMAN	H	123	ENSP00000342097:R123H;ENSP00000360841:R123H;ENSP00000441028:R123H	ENSP00000342097:R123H	R	+	2	0	OBP2A	137579628	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.422000	0.21296	0.301000	0.22738	-0.583000	0.04132	CGC		PASS	0.617	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		9	45	9	45	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75276561	75276561	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr10:75276561A>G	ENST00000339859.4	-	19	3723	c.3623T>C	c.(3622-3624)cTt>cCt	p.L1208P	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.L390P|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L296P|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.L1058P|USP54_ENST00000408019.1_Missense_Mutation_p.L1208P			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1208					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.L296P(1)|p.L1208P(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTTAAGGCAAGAGAAGAATG	0.522																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|lung(2)|kidney(1)	6						c.(3622-3624)CTT>CCT		ubiquitin specific peptidase 54							145.0	149.0	148.0					10																	75276561		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75276561A>G	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3623T>C	10.37:g.75276561A>G	ENSP00000345216:p.Leu1208Pro					USP54_uc010qkk.1_Missense_Mutation_p.L390P|USP54_uc001juk.2_Missense_Mutation_p.L296P|USP54_uc001jul.2_Missense_Mutation_p.L296P|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	p.L1208P	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			18	3640	-	Prostate(51;0.0112)		1208					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.3623T>C	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	A	8.568	0.879295	0.17467	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.29142	1.71;1.71;1.69;1.58;1.6	5.79	4.65	0.58169	.	.	.	.	.	T	0.31199	0.0789	L	0.29908	0.895	0.09310	N	0.999995	D;P	0.53885	0.963;0.8	P;B	0.53809	0.735;0.259	T	0.16453	-1.0402	9	0.87932	D	0	-1.8717	4.6565	0.12620	0.6989:0.0:0.1587:0.1424	.	390;1208	E7EW90;Q70EL1	.;UBP54_HUMAN	P	1208;1208;1058;296;390	ENSP00000345216:L1208P;ENSP00000386080:L1208P;ENSP00000408714:L1058P;ENSP00000378290:L296P;ENSP00000407368:L390P	ENSP00000345216:L1208P	L	-	2	0	USP54	74946567	0.905000	0.30787	0.024000	0.17045	0.156000	0.22039	2.904000	0.48719	1.034000	0.39945	0.533000	0.62120	CTT		PASS	0.522	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		25	181	25	181	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75286428	75286428	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr10:75286428C>A	ENST00000339859.4	-	15	2271	c.2171G>T	c.(2170-2172)tGg>tTg	p.W724L	USP54_ENST00000422491.2_5'Flank|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.W574L|USP54_ENST00000408019.1_Missense_Mutation_p.W724L|RNU6-883P_ENST00000384597.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	724					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.W724L(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTCTTTGTCCAGCCACCCAT	0.517																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|lung(2)|kidney(1)	6						c.(2170-2172)TGG>TTG		ubiquitin specific peptidase 54							94.0	95.0	95.0					10																	75286428		2018	4174	6192	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75286428C>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2171G>T	10.37:g.75286428C>A	ENSP00000345216:p.Trp724Leu					USP54_uc010qkk.1_5'Flank|USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.W724L	p.W724L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			14	2188	-	Prostate(51;0.0112)		724					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.2171G>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705441	0.68615	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547	T;T;T	0.32515	1.48;1.48;1.45	5.95	5.95	0.96441	.	0.149824	0.31949	U	0.006820	T	0.54679	0.1873	L	0.60455	1.87	0.80722	D	1	B;D	0.89917	0.264;1.0	B;D	0.83275	0.055;0.996	T	0.52034	-0.8629	10	0.72032	D	0.01	-4.3499	18.5553	0.91081	0.0:1.0:0.0:0.0	.	724;724	Q70EL1-6;Q70EL1	.;UBP54_HUMAN	L	724;724;574	ENSP00000345216:W724L;ENSP00000386080:W724L;ENSP00000408714:W574L	ENSP00000345216:W724L	W	-	2	0	USP54	74956434	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.995000	0.63908	2.817000	0.96982	0.563000	0.77884	TGG		PASS	0.517	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		4	116	4	116	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106927088	106927088	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr10:106927088C>A	ENST00000369701.3	+	13	2109	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	628					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.L628M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACACACACCTCTGCCAGTCAG	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1882-1884)CTG>ATG		VPS10 domain receptor protein SORCS 3 precursor							138.0	119.0	125.0					10																	106927088		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106927088C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1882C>A	10.37:g.106927088C>A	ENSP00000358715:p.Leu628Met						p.L628M	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	13	2109	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	628			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1882C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	9.799	1.180010	0.21787	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.47869	0.83;0.83	5.76	4.79	0.61399	VPS10 (1);	0.239244	0.41001	D	0.000966	T	0.30198	0.0757	N	0.25245	0.725	0.33250	D	0.558353	B	0.25486	0.127	B	0.19946	0.027	T	0.32981	-0.9886	9	.	.	.	.	10.0626	0.42284	0.2334:0.66:0.1066:0.0	.	628	Q9UPU3	SORC3_HUMAN	M	628;73	ENSP00000358715:L628M;ENSP00000376876:L73M	.	L	+	1	2	SORCS3	106917078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.202000	0.32271	2.721000	0.93114	0.655000	0.94253	CTG		PASS	0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		4	89	4	89	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1264911	1264911	+	Silent	SNP	T	T	C			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr11:1264911T>C	ENST00000529681.1	+	31	6859	c.6801T>C	c.(6799-6801)tcT>tcC	p.S2267S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S2270S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2267	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S2267S(1)|p.S2270S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCCCTTCTCCAGGGACGA	0.677																																						uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(8713-8715)TCT>TCC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							127.0	156.0	146.0					11																	1264911		2155	4230	6385	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264911T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6801T>C	11.37:g.1264911T>C						MUC5B_uc001ltb.2_Silent_p.S2270S	p.S2905S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	8841	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2267			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.8715T>C	CCDS44515.2																																																																																				PASS	0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	80	3	80	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55653687	55653687	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr11:55653687G>T	ENST00000449290.2	+	3	592	c.500G>T	c.(499-501)tGc>tTc	p.C167F	TRIM51_ENST00000244891.3_Missense_Mutation_p.C24F	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	167						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.C8F(1)|p.C167F(1)									AGAACCAGATGCTGGAAGGTT	0.398																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(499-501)TGC>TTC		SPRY domain containing 5							92.0	92.0	92.0					11																	55653687		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653687G>T	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.500G>T	11.37:g.55653687G>T	ENSP00000395086:p.Cys167Phe					SPRYD5_uc010riq.1_Missense_Mutation_p.C24F	p.C167F	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			3	592	+		all_epithelial(135;0.226)	167					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.500G>T		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.553160	0.00138	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04551	3.6;3.6	.	.	.	.	.	.	.	.	T	0.03739	0.0106	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.48636	-0.9018	7	0.10111	T	0.7	.	.	.	.	.	167	Q9BSJ1	SPRY5_HUMAN	F	167;24	ENSP00000395086:C167F;ENSP00000244891:C24F	ENSP00000244891:C24F	C	+	2	0	SPRYD5	55410263	0.853000	0.29707	0.112000	0.21494	0.124000	0.20399	-0.054000	0.11826	0.149000	0.19098	0.152000	0.16155	TGC		PASS	0.398	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	59	5	59	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77047173	77047173	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr11:77047173C>T	ENST00000356341.3	-	13	1902	c.1371G>A	c.(1369-1371)atG>atA	p.M457I	PAK1_ENST00000530617.1_Missense_Mutation_p.M457I|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Missense_Mutation_p.M359I|PAK1_ENST00000278568.4_Missense_Mutation_p.M457I	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	457	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M457I(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCCCTTCAATCATTTCGATGG	0.498																																						uc001oyh.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|stomach(1)|lung(1)	4						c.(1369-1371)ATG>ATA		p21-activated kinase 1 isoform 2							131.0	114.0	120.0					11																	77047173		2200	4292	6492	SO:0001583	missense	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77047173C>T	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1371G>A	11.37:g.77047173C>T	ENSP00000348696:p.Met457Ile					PAK1_uc010rso.1_Missense_Mutation_p.M359I|PAK1_uc001oyg.3_Missense_Mutation_p.M457I|PAK1_uc001oyi.1_Missense_Mutation_p.M457I|PAK1_uc010rsn.1_Missense_Mutation_p.M170I	p.M457I	NM_002576	NP_002567	Q13153	PAK1_HUMAN			13	1904	-	all_cancers(14;1.75e-18)		457			Protein kinase.		O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	c.1371G>A	CCDS8250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.403986|5.403986	0.96051|0.96051	.|.	.|.	ENSG00000149269|ENSG00000149269	ENST00000533285|ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.|T;T;T;T	.|0.16196	.|2.36;2.36;2.36;2.36	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40546|0.40546	0.1121|0.1121	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.969;0.997;0.999;1.0	.|D;D;D;D	.|0.85130	.|0.977;0.997;0.997;0.994	T|T	0.05115|0.05115	-1.0905|-1.0905	5|10	.|0.87932	.|D	.|0	.|.	20.2946|20.2946	0.98546|0.98546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|359;457;457;457	.|E9PM17;B3KNX7;Q13153;Q13153-2	.|.;.;PAK1_HUMAN;.	N|I	179|457;457;457;359	.|ENSP00000348696:M457I;ENSP00000433423:M457I;ENSP00000278568:M457I;ENSP00000433211:M359I	.|ENSP00000278568:M457I	D|M	-|-	1|3	0|0	PAK1|PAK1	76724821|76724821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	GAT|ATG		PASS	0.498	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		9	100	9	100	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104871149	104871149	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr11:104871149A>G	ENST00000260315.3	-	6	790	c.791T>C	c.(790-792)cTc>cCc	p.L264P	CASP5_ENST00000531367.1_Missense_Mutation_p.L122P|CASP5_ENST00000418434.1_Missense_Mutation_p.L122P|CASP5_ENST00000526056.1_Missense_Mutation_p.L277P|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000393141.2_Missense_Mutation_p.L277P|CASP5_ENST00000444749.2_Missense_Mutation_p.L206P			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	264					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.L277P(1)|p.L248P(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATGAGACATGAGTACCAAGAA	0.458																																						uc010rva.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(790-792)CTC>CCC		caspase 5 isoform a precursor							132.0	120.0	124.0					11																	104871149		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104871149A>G		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.791T>C	11.37:g.104871149A>G	ENSP00000260315:p.Leu264Pro					CASP5_uc010ruz.1_Missense_Mutation_p.L277P|CASP5_uc010rvb.1_Missense_Mutation_p.L206P|CASP5_uc010rvc.1_Missense_Mutation_p.L122P|CASP5_uc009yxh.2_Missense_Mutation_p.L46P|CASP5_uc010rvd.1_Missense_Mutation_p.L46P	p.L264P	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	6	823	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	264					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.791T>C	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	12.11	1.838442	0.32513	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	4.21	4.21	0.49690	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.491609	0.21799	N	0.068960	T	0.54935	0.1889	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.71674	0.991;0.996;0.998;0.993	D;D;D;D	0.77004	0.959;0.959;0.989;0.967	T	0.63143	-0.6703	10	0.87932	D	0	.	11.5415	0.50669	1.0:0.0:0.0:0.0	.	122;206;264;277	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	P	277;122;264;206;277;122	ENSP00000376849:L277P;ENSP00000398130:L122P;ENSP00000260315:L264P;ENSP00000388365:L206P;ENSP00000436877:L277P;ENSP00000434471:L122P	ENSP00000260315:L264P	L	-	2	0	CASP5	104376359	0.999000	0.42202	0.070000	0.20053	0.047000	0.14425	7.419000	0.80179	1.684000	0.51022	0.172000	0.16884	CTC		PASS	0.458	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		3	106	3	106	---	---	---	---
NRIP2	83714	broad.mit.edu	37	12	2939920	2939920	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr12:2939920C>T	ENST00000337508.4	-	2	489	c.449G>A	c.(448-450)aGg>aAg	p.R150K		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	150					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)	p.R150K(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTGGTCTTCCTCCTGCTCTC	0.572																																						uc001qlc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)AGG>AAG		nuclear receptor interacting protein 2							103.0	87.0	92.0					12																	2939920		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2939920C>T	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.449G>A	12.37:g.2939920C>T	ENSP00000337501:p.Arg150Lys					NRIP2_uc010sed.1_Missense_Mutation_p.R150K	p.R150K	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		2	521	-			150					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.449G>A	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.977861	0.00452	.	.	ENSG00000053702	ENST00000337508;ENST00000546074;ENST00000542990;ENST00000542386	.	.	.	4.6	-6.92	0.01644	.	0.840093	0.10368	N	0.683119	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30592	-0.9973	9	0.05959	T	0.93	-2.7657	2.3399	0.04257	0.1117:0.2079:0.2206:0.4598	.	150	Q9BQI9	NRIP2_HUMAN	K	150;139;100;100	.	ENSP00000337501:R150K	R	-	2	0	NRIP2	2810181	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.488000	0.06497	-1.606000	0.01591	-0.224000	0.12420	AGG		PASS	0.572	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		11	40	11	40	---	---	---	---
ETNK1	55500	broad.mit.edu	37	12	22812066	22812066	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr12:22812066G>A	ENST00000266517.4	+	3	891	c.802G>A	c.(802-804)Gca>Aca	p.A268T		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	268					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.A268T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACAGGATTTGCAGATGAAGA	0.328																																					Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GCA>ACA		ethanolamine kinase 1 isoform A							68.0	66.0	67.0					12																	22812066		2203	4300	6503	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22812066G>A	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.802G>A	12.37:g.22812066G>A	ENSP00000266517:p.Ala268Thr					ETNK1_uc009ziz.2_Missense_Mutation_p.A268T	p.A268T	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			3	824	+			268					G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.802G>A	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860822	0.32884	.	.	ENSG00000139163	ENST00000266517;ENST00000381409	T	0.59083	0.29	5.32	3.5	0.40072	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.280921	0.35838	N	0.002958	T	0.32823	0.0842	N	0.04805	-0.155	0.80722	D	1	B;B	0.18013	0.025;0.014	B;B	0.20577	0.03;0.017	T	0.05194	-1.0900	10	0.20046	T	0.44	-4.543	10.1288	0.42665	0.1556:0.0:0.8444:0.0	.	268;268	E9PD44;Q9HBU6	.;EKI1_HUMAN	T	268	ENSP00000266517:A268T	ENSP00000266517:A268T	A	+	1	0	ETNK1	22703333	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.297000	0.33400	0.636000	0.30508	-0.263000	0.10527	GCA		PASS	0.328	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		9	66	9	66	---	---	---	---
ETNK1	55500	broad.mit.edu	37	12	22812075	22812075	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr12:22812075G>C	ENST00000266517.4	+	3	900	c.811G>C	c.(811-813)Gac>Cac	p.D271H		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	271					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.D271H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCAGATGAAGACATTAATAA	0.328																																					Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)GAC>CAC		ethanolamine kinase 1 isoform A							60.0	59.0	60.0					12																	22812075		2203	4300	6503	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22812075G>C	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.811G>C	12.37:g.22812075G>C	ENSP00000266517:p.Asp271His					ETNK1_uc009ziz.2_Missense_Mutation_p.D271H	p.D271H	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			3	833	+			271					G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.811G>C	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.379198|2.379198	0.42207|0.42207	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000266517;ENST00000381409|ENST00000538218;ENST00000541247	T|.	0.59364|.	0.27|.	5.32|5.32	4.42|4.42	0.53409|0.53409	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.301944|.	0.36409|.	N|.	0.002619|.	T|T	0.52240|0.52240	0.1722|0.1722	L|L	0.31371|0.31371	0.925|0.925	0.80722|0.80722	D|D	1|1	B;B|.	0.23990|.	0.095;0.022|.	B;B|.	0.29267|.	0.1;0.039|.	T|T	0.46843|0.46843	-0.9162|-0.9162	10|5	0.56958|.	D|.	0.05|.	-5.3278|-5.3278	12.7139|12.7139	0.57103|0.57103	0.0779:0.0:0.9221:0.0|0.0779:0.0:0.9221:0.0	.|.	271;271|.	E9PD44;Q9HBU6|.	.;EKI1_HUMAN|.	H|N	271|261;150	ENSP00000266517:D271H|.	ENSP00000266517:D271H|.	D|K	+|+	1|3	0|2	ETNK1|ETNK1	22703342|22703342	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	5.734000|5.734000	0.68580|0.68580	1.223000|1.223000	0.43536|0.43536	0.555000|0.555000	0.69702|0.69702	GAC|AAG		PASS	0.328	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		10	62	10	62	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84455475	84455475	+	Silent	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr13:84455475C>T	ENST00000377084.2	-	1	1053	c.168G>A	c.(166-168)ccG>ccA	p.P56P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	56	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.P56P(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACTGGGAAGTCGGGGCAGTGA	0.438																																						uc001vlk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(166-168)CCG>CCA		slit and trk like 1 protein precursor							79.0	80.0	79.0					13																	84455475		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84455475C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.168G>A	13.37:g.84455475C>T							p.P56P	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1054	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	56			LRRNT.|Extracellular (Potential).		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.168G>A	CCDS9464.1																																																																																				PASS	0.438	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		14	89	14	89	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23890182	23890182	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr14:23890182C>G	ENST00000355349.3	-	26	3483	c.3321G>C	c.(3319-3321)aaG>aaC	p.K1107N	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1107					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.K1107N(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCCTTGAGCTTCTTCTGCA	0.582																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3319-3321)AAG>AAC		myosin, heavy chain 7, cardiac muscle, beta							89.0	77.0	81.0					14																	23890182		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23890182C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3321G>C	14.37:g.23890182C>G	ENSP00000347507:p.Lys1107Asn					MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.K1107N	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	26	3427	-	all_cancers(95;2.54e-05)		1107			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3321G>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958539	0.74016	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83755	-1.76	5.55	3.7	0.42460	Myosin tail (1);	.	.	.	.	D	0.93262	0.7853	H	0.96269	3.795	0.51767	D	0.999934	D	0.89917	1.0	D	0.91635	0.999	D	0.94714	0.7895	9	0.87932	D	0	.	12.4759	0.55814	0.0:0.8627:0.0:0.1373	.	1107	P12883	MYH7_HUMAN	N	1107	ENSP00000347507:K1107N	ENSP00000347507:K1107N	K	-	3	2	MYH7	22960022	0.982000	0.34865	1.000000	0.80357	0.998000	0.95712	0.896000	0.28377	1.592000	0.50018	0.655000	0.94253	AAG		PASS	0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		15	83	15	83	---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68050582	68050582	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr14:68050582C>A	ENST00000329153.5	+	25	3683	c.3551C>A	c.(3550-3552)gCc>gAc	p.A1184D	PLEKHH1_ENST00000417684.2_Missense_Mutation_p.A49D	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1184	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.A1223D(1)|p.A1184D(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGACATGGGGCCCCCGCTGAA	0.607											OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3550-3552)GCC>GAC		pleckstrin homology domain containing, family H							29.0	30.0	29.0					14																	68050582		1925	4131	6056	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68050582C>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3551C>A	14.37:g.68050582C>A	ENSP00000330278:p.Ala1184Asp		OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1104	PLEKHH1_uc010tsw.1_Missense_Mutation_p.A752D|PLEKHH1_uc001xjn.1_Missense_Mutation_p.A699D|PLEKHH1_uc010tsx.1_Missense_Mutation_p.A49D|PLEKHH1_uc001xjo.1_Missense_Mutation_p.A49D|PLEKHH1_uc001xjp.1_Missense_Mutation_p.A49D	p.A1184D	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	25	3693	+			1184			FERM.		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.3551C>A	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936418	0.18206	.	.	ENSG00000054690	ENST00000329153;ENST00000417684	T;T	0.78126	-1.15;-1.15	5.43	0.528	0.17089	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.558134	0.21283	N	0.077113	T	0.74543	0.3730	L	0.50333	1.59	0.09310	N	1	P;P;B	0.44877	0.813;0.845;0.248	P;P;B	0.47891	0.56;0.48;0.427	T	0.66697	-0.5858	10	0.56958	D	0.05	.	9.7925	0.40715	0.0:0.5589:0.0:0.4411	.	49;49;1184	E7ESY2;B3KWD2;Q9ULM0	.;.;PKHH1_HUMAN	D	1184;49	ENSP00000330278:A1184D;ENSP00000397712:A49D	ENSP00000330278:A1184D	A	+	2	0	PLEKHH1	67120335	0.031000	0.19500	0.050000	0.19076	0.053000	0.15095	0.592000	0.23984	0.149000	0.19098	-0.794000	0.03295	GCC		PASS	0.607	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		3	31	3	31	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93677049	93677049	+	Missense_Mutation	SNP	C	C	T	rs535218313		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr14:93677049C>T	ENST00000013070.6	+	3	576	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F	RP11-371E8.4_ENST00000557048.1_3'UTR|UBR7_ENST00000416753.1_Missense_Mutation_p.L38F|RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.L133F	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	114							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L114F(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ATGCAAATTACTTCCTGTAAG	0.289													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16032	0.0		0.0	False		,,,				2504	0.0					uc001ybm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)CTT>TTT		ubiquitin protein ligase E3 component n-recognin							31.0	32.0	32.0					14																	93677049		2197	4290	6487	SO:0001583	missense	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93677049C>T	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.340C>T	14.37:g.93677049C>T	ENSP00000013070:p.Leu114Phe					UBR7_uc001ybn.3_Missense_Mutation_p.L38F|UBR7_uc010auq.2_5'UTR	p.L114F	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			3	576	+			114			UBR-type.		Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.340C>T	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.017|5.017	0.188808|0.188808	0.09547|0.09547	.|.	.|.	ENSG00000259066;ENSG00000012963;ENSG00000012963;ENSG00000012963;ENSG00000012963|ENSG00000012963	ENST00000557574;ENST00000013070;ENST00000535646;ENST00000416753;ENST00000554232|ENST00000555113	T;T;T;T|.	0.76968|.	-1.06;-1.05;-1.03;-1.02|.	6.07|6.07	3.62|3.62	0.41486|0.41486	Zinc finger, N-recognin (1);|.	0.392618|.	0.31484|.	N|.	0.007570|.	T|T	0.09158|0.09158	0.0226|0.0226	N|N	0.00788|0.00788	-1.185|-1.185	0.24730|0.24730	N|N	0.99309|0.99309	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.23583|0.23583	-1.0184|-1.0184	10|5	0.09843|.	T|.	0.71|.	-4.9007|-4.9007	9.8773|9.8773	0.41211|0.41211	0.0:0.226:0.0:0.774|0.0:0.226:0.0:0.774	.|.	38;114|.	E9PCJ7;Q8N806|.	.;UBR7_HUMAN|.	F|I	133;114;38;38;114|104	ENSP00000451369:L133F;ENSP00000013070:L114F;ENSP00000391706:L38F;ENSP00000450645:L114F|.	ENSP00000013070:L114F|.	L|T	+|+	1|2	0|0	RP11-371E8.4;UBR7|UBR7	92746802|92746802	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.027000|1.027000	0.30115|0.30115	1.110000|1.110000	0.41699|0.41699	-0.438000|-0.438000	0.05819|0.05819	CTT|ACT		PASS	0.289	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		4	22	4	22	---	---	---	---
SERPINA13P	388007	broad.mit.edu	37	14	95107688	95107688	+	RNA	SNP	G	G	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr14:95107688G>T	ENST00000469935.1	+	0	293					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V12L(1)									GCTGGTCACTGTGCTCATGGC	0.587																																						uc001ydt.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(205-207)GTG>TTG		RecName: Full=Serpin A13; Flags: Precursor;							65.0	44.0	51.0					14																	95107688		2203	4300	6503			388007							g.chr14:95107688G>T	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95107688G>T							p.V69L	NR_015340						2	293	+									Missense_Mutation	SNP	ENST00000469935.1	37	c.205G>T																																																																																					PASS	0.587	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		6	36	6	36	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30387745	30387745	+	IGR	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr16:30387745C>A	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Splice_Site_p.G58G			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.G58G(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCCCTCCAGGCCGCCTCAATG	0.577																																						uc002dxv.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(172-174)GGC>GGA		myosin light chain, phosphorylatable, fast							85.0	90.0	88.0					16																	30387745		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387745C>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387745C>A							p.G58G	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		4	230	+			58			EF-hand 1.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	ENST00000571393.1	37	c.174C>A																																																																																					PASS	0.577	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		7	70	7	70	---	---	---	---
PDP2	57546	broad.mit.edu	37	16	66918200	66918200	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr16:66918200G>T	ENST00000311765.2	+	2	347	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	5					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|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)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.V5L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTCAAGTACTGTGTCCTACTG	0.328																																						uc002eqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)GTG>TTG		pyruvate dehydrogenase phosphatase isoenzyme 2							92.0	99.0	96.0					16																	66918200		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918200G>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.13G>T	16.37:g.66918200G>T	ENSP00000309548:p.Val5Leu						p.V5L	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	175	+		Ovarian(137;0.0563)	5					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.13G>T	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	9.188	1.025346	0.19433	.	.	ENSG00000172840	ENST00000311765	T	0.49139	0.79	5.53	0.085	0.14439	.	0.524909	0.18024	N	0.154150	T	0.27933	0.0688	N	0.25647	0.755	0.21445	N	0.999688	B	0.06786	0.001	B	0.06405	0.002	T	0.14643	-1.0465	10	0.23302	T	0.38	-3.6037	6.6621	0.23020	0.2614:0.0:0.618:0.1207	.	5	Q9P2J9	PDP2_HUMAN	L	5	ENSP00000309548:V5L	ENSP00000309548:V5L	V	+	1	0	PDP2	65475701	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	1.211000	0.32382	0.096000	0.17463	0.650000	0.86243	GTG		PASS	0.328	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		9	148	9	148	---	---	---	---
CES4A	283848	broad.mit.edu	37	16	67039259	67039259	+	Missense_Mutation	SNP	C	C	A	rs200048468	byFrequency	TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr16:67039259C>A	ENST00000326686.5	+	11	1278	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	CES4A_ENST00000398354.1_Missense_Mutation_p.F399L|CES4A_ENST00000541479.1_Missense_Mutation_p.F422L|CES4A_ENST00000535696.1_Missense_Mutation_p.F332L|CES4A_ENST00000540947.2_Missense_Mutation_p.F426L|CES4A_ENST00000338718.4_Missense_Mutation_p.F449L|CES4A_ENST00000540579.1_Missense_Mutation_p.F328L			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	426						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.F399L(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ATGCCACTTTCGTGTATGCCA	0.532																																						uc002eqv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1195-1197)TTC>TTA		carboxylesterase 8 (putative)							121.0	125.0	124.0					16																	67039259		2117	4240	6357	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67039259C>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1278C>A	16.37:g.67039259C>A	ENSP00000314145:p.Phe426Leu					CES8_uc010vix.1_Missense_Mutation_p.F426L|CES8_uc002eqw.2_Missense_Mutation_p.F399L|CES8_uc002eqy.2_Missense_Mutation_p.F328L|CES8_uc002eqx.2_Missense_Mutation_p.F232L|CES8_uc010viy.1_Missense_Mutation_p.F332L|CES8_uc010viz.1_Missense_Mutation_p.F328L|CES8_uc002eqz.2_5'Flank	p.F399L	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN			10	1240	+			426					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1197C>A		.	.	.	.	.	.	.	.	.	.	c	15.14	2.745957	0.49151	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.71461	-0.57;-0.05;-0.57;-0.05;-0.57;-0.05;-0.57;-0.57	4.06	-1.04	0.10068	Carboxylesterase, type B (1);	0.000000	0.38959	N	0.001502	T	0.77772	0.4180	M	0.81112	2.525	0.09310	N	1	P;P;P;D	0.67145	0.484;0.484;0.86;0.996	B;B;P;D	0.66084	0.163;0.163;0.906;0.941	T	0.67730	-0.5595	10	0.87932	D	0	.	4.5706	0.12208	0.0:0.2938:0.1611:0.5451	.	332;449;426;422	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	L	426;422;449;399;426;362;328;332	ENSP00000444052:F426L;ENSP00000443175:F422L;ENSP00000340714:F449L;ENSP00000381397:F399L;ENSP00000314145:F426L;ENSP00000441103:F362L;ENSP00000441907:F328L;ENSP00000441644:F332L	ENSP00000314145:F426L	F	+	3	2	CES4A	65596760	0.209000	0.23505	0.000000	0.03702	0.003000	0.03518	-0.436000	0.06922	-0.335000	0.08451	-0.348000	0.07805	TTC		PASS	0.532	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		4	69	4	69	---	---	---	---
ZNRF1	84937	broad.mit.edu	37	16	75146331	75146331	+	IGR	SNP	C	C	T	rs368849678		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr16:75146331C>T	ENST00000335325.4	+	0	4620				LDHD_ENST00000300051.4_Missense_Mutation_p.V483M|LDHD_ENST00000450168.2_Missense_Mutation_p.V460M|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V483M(1)		breast(1)	1						TCCACGCCCACGGCGCCCACC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		16676	0.0		0.0	False		,,,				2504	0.001					uc002fdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1447-1449)GTG>ATG		D-lactate dehydrogenase isoform 1 precursor		C	MET/VAL,MET/VAL	0,4394		0,0,2197	30.0	30.0	30.0		1447,1378	5.4	0.9	16		30	2,8596		0,2,4297	no	missense,missense	LDHD	NM_153486.3,NM_194436.2	21,21	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	483/508,460/485	75146331	2,12990	2197	4299	6496	SO:0001628	intergenic_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75146331C>T	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75146331C>T						LDHD_uc002fdn.2_Missense_Mutation_p.V460M	p.V483M	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			11	1494	-			483					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.1447G>A	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303755	0.60305	0.0	2.33E-4	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.84298	-1.83;-1.83	5.4	5.4	0.78164	Vanillyl-alcohol oxidase, C-terminal subdomain 2 (1);FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.579212	0.18107	N	0.151493	D	0.91375	0.7279	M	0.78049	2.395	0.31563	N	0.657316	P;P	0.51351	0.93;0.944	P;P	0.58210	0.566;0.835	D	0.91194	0.4986	10	0.51188	T	0.08	-27.7045	18.1664	0.89729	0.0:1.0:0.0:0.0	.	460;483	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	M	460;483	ENSP00000417011:V460M;ENSP00000300051:V483M	ENSP00000300051:V483M	V	-	1	0	LDHD	73703832	0.331000	0.24713	0.900000	0.35374	0.819000	0.46315	0.859000	0.27858	2.539000	0.85634	0.655000	0.94253	GTG		PASS	0.662	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			4	36	4	36	---	---	---	---
MNT	4335	broad.mit.edu	37	17	2298341	2298341	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr17:2298341C>A	ENST00000174618.4	-	2	886	c.481G>T	c.(481-483)Ggc>Tgc	p.G161C	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	161					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G161C(1)		endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TTGGGGCTGCCATTGGGTGGA	0.697																																						uc002fur.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(481-483)GGC>TGC		MAX binding protein							28.0	27.0	27.0					17																	2298341		2197	4289	6486	SO:0001583	missense	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2298341C>A	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.481G>T	17.37:g.2298341C>A	ENSP00000174618:p.Gly161Cys						p.G161C	NM_020310	NP_064706	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	2	733	-			161					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.481G>T	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884929	0.51908	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.82081	-1.57	4.59	1.41	0.22369	.	0.852442	0.10002	N	0.728341	D	0.86539	0.5957	L	0.47716	1.5	0.35629	D	0.810069	D	0.76494	0.999	D	0.68192	0.956	D	0.83712	0.0188	10	0.87932	D	0	-0.9135	9.4007	0.38431	0.0:0.7597:0.0:0.2403	.	161	Q99583	MNT_HUMAN	C	161	ENSP00000174618:G161C	ENSP00000174618:G161C	G	-	1	0	MNT	2245091	0.671000	0.27521	0.077000	0.20336	0.896000	0.52359	2.508000	0.45450	0.130000	0.18549	0.655000	0.94253	GGC		PASS	0.697	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		3	16	3	16	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18210214	18210214	+	Silent	SNP	T	T	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr17:18210214T>A	ENST00000321105.5	-	4	595	c.381A>T	c.(379-381)gtA>gtT	p.V127V	TOP3A_ENST00000542570.1_Silent_p.V32V|TOP3A_ENST00000582230.1_5'Flank	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	127	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.V127V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCTTGATGTCTACAAAATTCT	0.408																																						uc002gsx.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(379-381)GTA>GTT		topoisomerase (DNA) III alpha							99.0	94.0	96.0					17																	18210214		2203	4300	6503	SO:0001819	synonymous_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18210214T>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.381A>T	17.37:g.18210214T>A						TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.V25V|TOP3A_uc010cqa.1_RNA	p.V127V	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			4	610	-			127			Toprim.		A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	c.381A>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.794140	0.50102	.	.	ENSG00000177302	ENST00000412083	.	.	.	5.95	-1.44	0.08856	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.9109	4.2202	0.10554	0.2402:0.2742:0.0:0.4856	.	.	.	.	X	107	.	.	R	-	1	2	TOP3A	18150939	0.519000	0.26242	0.995000	0.50966	0.981000	0.71138	-0.340000	0.07821	-0.103000	0.12175	-0.301000	0.09380	AGA		PASS	0.408	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			6	44	6	44	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26964040	26964040	+	Silent	SNP	T	T	C			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr17:26964040T>C	ENST00000528896.2	-	15	1994	c.1920A>G	c.(1918-1920)ccA>ccG	p.P640P	KIAA0100_ENST00000544884.1_Silent_p.P497P|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P497P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	640						extracellular region (GO:0005576)		p.P640P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGCTGAGCACTGGGGTAGGGA	0.547																																						uc002hbu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1918-1920)CCA>CCG		hypothetical protein LOC9703 precursor							130.0	114.0	119.0					17																	26964040		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26964040T>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1920A>G	17.37:g.26964040T>C							p.P640P	NM_014680	NP_055495	Q14667	K0100_HUMAN			15	2019	-	Lung NSC(42;0.00431)		640					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.1920A>G	CCDS32595.1																																																																																				PASS	0.547	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		9	98	9	98	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29665757	29665757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr17:29665757C>A	ENST00000358273.4	+	46	7238	c.6855C>A	c.(6853-6855)taC>taA	p.Y2285*	NF1_ENST00000444181.2_Nonsense_Mutation_p.Y78*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Y2264*|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2285					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.Y2285*(4)|p.Y2285fs*5(4)|p.?(3)|p.Y2285fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGACACTTACAACAGTCAAG	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		20	Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Nonsense(4)|Unknown(3)	p.Y2285fs*5(4)|p.Y2285*(2)	soft_tissue(10)|central_nervous_system(4)|lung(3)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM972796|CM981382	NF1	M		c.(6853-6855)TAC>TAA		neurofibromin isoform 1							87.0	86.0	86.0					17																	29665757		2203	4296	6499	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665757C>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6855C>A	17.37:g.29665757C>A	ENSP00000351015:p.Tyr2285*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.Y2264*|NF1_uc010cso.2_Nonsense_Mutation_p.Y473*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA	p.Y2285*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	46	7188	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2285					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.6855C>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486991	0.84854	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.91	4.94	0.65067	.	0.056060	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9214	0.41466	0.0:0.7595:0.1181:0.1225	.	.	.	.	X	2285;2264;1930;78	.	ENSP00000348498:Y2264X	Y	+	3	2	NF1	26689883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.650000	0.46665	2.814000	0.96858	0.650000	0.86243	TAC		PASS	0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	117	20	117	---	---	---	---
TMEM106A	113277	broad.mit.edu	37	17	41368482	41368482	+	Silent	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr17:41368482C>T	ENST00000331615.3	+	6	681	c.444C>T	c.(442-444)atC>atT	p.I148I	LINC00854_ENST00000595400.1_RNA|LINC00854_ENST00000593624.1_RNA|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000541594.1_Silent_p.I100I|TMEM106A_ENST00000588659.1_Silent_p.I148I|TMEM106A_ENST00000536052.1_Intron|TMEM106A_ENST00000592564.1_3'UTR	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	148						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I148I(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		TCTTAAACATCTCCAATGGCA	0.517																																						uc002idn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)ATC>ATT		transmembrane protein 106A							256.0	259.0	258.0					17																	41368482		2203	4296	6499	SO:0001819	synonymous_variant	113277					integral to membrane		g.chr17:41368482C>T	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.444C>T	17.37:g.41368482C>T						TMEM106A_uc010why.1_Silent_p.I100I|TMEM106A_uc010cze.1_Silent_p.I148I|TMEM106A_uc010whz.1_Intron	p.I148I	NM_145041	NP_659478	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	6	681	+		Breast(137;0.0164)	148					A8K2X2|B7Z698	Silent	SNP	ENST00000331615.3	37	c.444C>T	CCDS11462.1																																																																																				PASS	0.517	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		50	347	50	347	---	---	---	---
CASKIN2	57513	broad.mit.edu	37	17	73497987	73497987	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr17:73497987G>T	ENST00000321617.3	-	18	3754	c.3168C>A	c.(3166-3168)agC>agA	p.S1056R	CASKIN2_ENST00000433559.2_Missense_Mutation_p.S974R	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1056	Pro-rich.					cytoplasm (GO:0005737)		p.S1056R(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCATGGCGGGGCTGGGAGCAA	0.677																																						uc002joc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3166-3168)AGC>AGA		cask-interacting protein 2 isoform a							36.0	47.0	43.0					17																	73497987		2200	4296	6496	SO:0001583	missense	57513					cytoplasm		g.chr17:73497987G>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3168C>A	17.37:g.73497987G>T	ENSP00000325355:p.Ser1056Arg					CASKIN2_uc010wsc.1_Missense_Mutation_p.S974R	p.S1056R	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3718	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1056			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3168C>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	6.102	0.387111	0.11581	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70045	-0.45;-0.23	4.9	1.6	0.23607	.	1.074150	0.07215	N	0.859828	T	0.48040	0.1478	N	0.19112	0.55	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.27226	-1.0080	10	0.11485	T	0.65	.	8.4674	0.32964	0.2849:0.0:0.7151:0.0	.	1056	Q8WXE0	CSKI2_HUMAN	R	1056;974	ENSP00000325355:S1056R;ENSP00000406963:S974R	ENSP00000325355:S1056R	S	-	3	2	CASKIN2	71009582	0.002000	0.14202	0.003000	0.11579	0.023000	0.10783	0.510000	0.22723	0.646000	0.30693	0.591000	0.81541	AGC		PASS	0.677	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		38	121	38	121	---	---	---	---
C19orf26	255057	broad.mit.edu	37	19	1231080	1231080	+	Intron	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr19:1231080C>T	ENST00000382477.2	-	9	1489				C19orf26_ENST00000215376.6_Missense_Mutation_p.G386S|C19orf26_ENST00000590083.1_Missense_Mutation_p.G392S			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26							integral component of membrane (GO:0016021)		p.G386S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCTAGCACCTCCATCTACT	0.721										HNSCC(14;0.022)																												uc002lrm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1156-1158)GGT>AGT		downstream of Stk11							11.0	14.0	13.0					19																	1231080		2135	4180	6315	SO:0001627	intron_variant	255057					integral to membrane		g.chr19:1231080C>T	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1214+19G>A	19.37:g.1231080C>T		HNSCC(14;0.022)					p.G386S	NM_152769	NP_689982	Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1431	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	414					O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.1156G>A		.	.	.	.	.	.	.	.	.	.	.	15.95	2.982861	0.53827	.	.	ENSG00000099625	ENST00000215376	.	.	.	4.46	0.741	0.18336	.	.	.	.	.	T	0.38878	0.1057	L	0.56769	1.78	0.23391	N	0.997772	B	0.23540	0.087	B	0.24006	0.05	T	0.30707	-0.9969	8	0.19590	T	0.45	.	7.0894	0.25275	0.0:0.5495:0.0:0.4504	.	386	Q8N350-2	.	S	386	.	ENSP00000215376:G386S	G	-	1	0	C19orf26	1182080	0.000000	0.05858	0.990000	0.47175	0.994000	0.84299	-0.836000	0.04382	0.028000	0.15324	0.543000	0.68304	GGT		PASS	0.721	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		8	23	8	23	---	---	---	---
NDUFA13	51079	broad.mit.edu	37	19	19625717	19625717	+	5'Flank	SNP	A	A	C			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr19:19625717A>C	ENST00000507754.4	+	0	0				NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.S174A|CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.S174A|NDUFA13_ENST00000512771.3_5'Flank|YJEFN3_ENST00000608404.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.S174A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TAGGCGGCTGAGCCGCAGTAG	0.662																																						uc002nmr.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(520-522)TCA>GCA		testis-specific serine kinase 6							39.0	35.0	36.0					19																	19625717		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625717A>C	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625717A>C	Exception_encountered					TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	p.S174A	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN			1	753	-			174			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.520T>G	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684217	0.68157	.	.	ENSG00000178093	ENST00000360913	T	0.28255	1.62	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.36628	U	0.002497	T	0.55832	0.1945	M	0.85777	2.775	0.34738	D	0.730437	D	0.76494	0.999	D	0.79784	0.993	T	0.71041	-0.4707	10	0.72032	D	0.01	.	8.7803	0.34787	0.8091:0.1909:0.0:0.0	.	174	Q9BXA6	TSSK6_HUMAN	A	174	ENSP00000354168:S174A	ENSP00000354168:S174A	S	-	1	0	TSSK6	19486717	1.000000	0.71417	0.987000	0.45799	0.909000	0.53808	1.990000	0.40717	1.822000	0.53115	0.249000	0.18162	TCA		PASS	0.662	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		5	22	5	22	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50549917	50549917	+	Silent	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr19:50549917C>T	ENST00000595661.1	+	6	2712	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	ZNF473_ENST00000270617.3_Silent_p.F739F|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.F727F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.F739F|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	739					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F739F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGAAGGCCTTCGGCCTGAGTG	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002prn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2215-2217)TTC>TTT		zinc finger protein 473							79.0	84.0	82.0					19																	50549917		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549917C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2217C>T	19.37:g.50549917C>T			OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	ZNF473_uc002prm.2_Silent_p.F739F|ZNF473_uc010ybo.1_Silent_p.F727F	p.F739F	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	2454	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	739			C2H2-type 16.		A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.2217C>T	CCDS33077.1																																																																																				PASS	0.512	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		26	113	26	113	---	---	---	---
ACTR5	79913	broad.mit.edu	37	20	37400216	37400216	+	Silent	SNP	G	G	A	rs202083819		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr20:37400216G>A	ENST00000243903.4	+	9	1618	c.1581G>A	c.(1579-1581)tcG>tcA	p.S527S		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	527					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)		p.S527S(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AACTTGCCTCGAACCCTGTGC	0.507																																						uc002xjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1579-1581)TCG>TCA		ARP5 actin-related protein 5 homolog		G		0,4406		0,0,2203	110.0	95.0	100.0		1581	-3.3	0.2	20		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACTR5	NM_024855.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		527/608	37400216	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37400216G>A	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1581G>A	20.37:g.37400216G>A							p.S527S	NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN			9	1606	+		Myeloproliferative disorder(115;0.00878)	527					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	c.1581G>A	CCDS13308.1																																																																																				PASS	0.507	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		30	98	30	98	---	---	---	---
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408	byFrequency	TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662													a|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.001					uc002zfq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)ACG>GCG		keratin associated protein 10-10							56.0	62.0	60.0					21																	46057497		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057497A>G	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.163A>G	21.37:g.46057497A>G	ENSP00000369438:p.Thr55Ala					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T55A	NM_181688	NP_859016	P60014	KR10A_HUMAN			1	225	+			55			3.|15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.163A>G	CCDS33585.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	0.001	-3.777528	0.00004	.	.	ENSG00000221859	ENST00000380095	T	0.00976	5.48	1.05	-1.25	0.09405	.	.	.	.	.	T	0.00356	0.0011	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	3.9159	0.09222	0.1957:0.4879:0.3163:0.0	rs377408	55	P60014	KR10A_HUMAN	A	55	ENSP00000369438:T55A	ENSP00000369438:T55A	T	+	1	0	KRTAP10-10	44881925	0.000000	0.05858	0.062000	0.19696	0.039000	0.13416	0.043000	0.13971	-0.506000	0.06558	-0.741000	0.03529	ACG		PASS	0.662	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		4	79	4	79	---	---	---	---
GNB1L	54584	broad.mit.edu	37	22	19799876	19799876	+	Missense_Mutation	SNP	G	G	A	rs372693569		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr22:19799876G>A	ENST00000329517.6	-	5	585	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	GNB1L_ENST00000405009.1_Missense_Mutation_p.R117W|GNB1L_ENST00000403325.1_Missense_Mutation_p.R117W|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	117					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.R117W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					ATGCTGCTCCGGCAGAAGCCC	0.697																																						uc002zqe.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(349-351)CGG>TGG		guanine nucleotide binding protein							38.0	34.0	35.0					22																	19799876		2203	4300	6503	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19799876G>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.349C>T	22.37:g.19799876G>A	ENSP00000331313:p.Arg117Trp					GNB1L_uc002zqd.1_5'UTR|GNB1L_uc002zqf.1_Missense_Mutation_p.R117W	p.R117W	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			4	743	-	Colorectal(54;0.0993)		117					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.349C>T	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068916	0.55539	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009;ENST00000453108	T;T;T;T	0.57752	1.04;1.04;4.99;0.38	4.96	1.33	0.21861	WD40 repeat-like-containing domain (1);	4.023290	0.03862	U	0.274095	T	0.63640	0.2528	L	0.59436	1.845	0.39400	D	0.96656	D	0.76494	0.999	P	0.53146	0.719	T	0.55560	-0.8122	10	0.66056	D	0.02	-12.6461	11.6932	0.51527	0.0:0.0:0.4631:0.5369	.	117	Q9BYB4	GNB1L_HUMAN	W	117;117;117;75	ENSP00000331313:R117W;ENSP00000385154:R117W;ENSP00000384626:R117W;ENSP00000389412:R75W	ENSP00000331313:R117W	R	-	1	2	GNB1L	18179876	0.998000	0.40836	0.903000	0.35520	0.219000	0.24729	0.334000	0.19787	0.222000	0.20900	-0.457000	0.05445	CGG		PASS	0.697	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			10	42	10	42	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20819559	20819559	+	Nonsense_Mutation	SNP	G	G	T	rs374479788		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr22:20819559G>T	ENST00000328879.4	-	4	854	c.698C>A	c.(697-699)tCg>tAg	p.S233*	KLHL22_ENST00000440659.2_Nonsense_Mutation_p.S90*	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	233					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)		p.S233*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCGTGCAGCGAGATCTGGTC	0.602																																						uc002zsl.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(697-699)TCG>TAG		kelch-like							36.0	35.0	35.0					22																	20819559		2203	4300	6503	SO:0001587	stop_gained	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819559G>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.698C>A	22.37:g.20819559G>T	ENSP00000331682:p.Ser233*					KLHL22_uc011ahr.1_Nonsense_Mutation_p.S90*|KLHL22_uc002zsm.1_Nonsense_Mutation_p.S233*	p.S233*	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	807	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	233					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Nonsense_Mutation	SNP	ENST00000328879.4	37	c.698C>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732291	0.89482	.	.	ENSG00000099910	ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967;ENST00000458248	.	.	.	5.32	4.31	0.51392	.	0.553727	0.20520	N	0.090701	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.6132	0.28142	0.0889:0.1658:0.7453:0.0	.	.	.	.	X	233;90;156;265;233	.	ENSP00000331682:S233X	S	-	2	0	KLHL22	19149559	0.996000	0.38824	0.567000	0.28434	0.935000	0.57460	2.807000	0.47955	1.245000	0.43885	-0.136000	0.14681	TCG		PASS	0.602	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		3	34	3	34	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23437925	23437925	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr22:23437925C>T	ENST00000248996.4	+	2	709	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	15					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)	p.R15W(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGCAGCCCGGCGGTCCCGGAG	0.637																																						uc002zwu.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(43-45)CGG>TGG		guanine nucleotide binding protein, alpha z							27.0	30.0	29.0					22																	23437925		2202	4297	6499	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23437925C>T		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.43C>T	22.37:g.23437925C>T	ENSP00000248996:p.Arg15Trp					RTDR1_uc002zwt.2_Intron	p.R15W	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	580	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		15					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.43C>T	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728887	0.89390	.	.	ENSG00000128266	ENST00000248996	D	0.89123	-2.47	5.05	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	H	0.96301	3.8	0.80722	D	1	D	0.65815	0.995	B	0.42214	0.38	D	0.93852	0.7146	10	0.87932	D	0	.	14.035	0.64640	0.1523:0.8477:0.0:0.0	.	15	P19086	GNAZ_HUMAN	W	15	ENSP00000248996:R15W	ENSP00000248996:R15W	R	+	1	2	GNAZ	21767925	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.704000	0.54815	1.221000	0.43506	0.655000	0.94253	CGG		PASS	0.637	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		8	43	8	43	---	---	---	---
SLC5A4	6527	broad.mit.edu	37	22	32614643	32614643	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr22:32614643G>T	ENST00000266086.4	-	15	1849	c.1838C>A	c.(1837-1839)cCc>cAc	p.P613H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	613					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.P613H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTTAGCTTGGGTCCCTTCTG	0.483																																						uc003ami.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1837-1839)CCC>CAC		solute carrier family 5 (low affinity glucose							136.0	105.0	116.0					22																	32614643		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32614643G>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1838C>A	22.37:g.32614643G>T	ENSP00000266086:p.Pro613His						p.P613H	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			15	1840	-			613			Cytoplasmic (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.1838C>A	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	5.822	0.335981	0.11013	.	.	ENSG00000100191	ENST00000266086	D	0.86432	-2.12	4.22	-0.667	0.11395	.	0.368243	0.31051	N	0.008344	T	0.81307	0.4795	M	0.66506	2.035	0.30764	N	0.743742	B	0.17465	0.022	B	0.18263	0.021	T	0.72014	-0.4418	10	0.59425	D	0.04	.	4.1181	0.10092	0.089:0.2872:0.4764:0.1474	.	613	Q9NY91	SC5A4_HUMAN	H	613	ENSP00000266086:P613H	ENSP00000266086:P613H	P	-	2	0	SLC5A4	30944643	1.000000	0.71417	0.006000	0.13384	0.138000	0.21146	2.933000	0.48948	-0.181000	0.10619	-0.312000	0.09012	CCC		PASS	0.483	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		5	150	5	150	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138687052	138687052	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chrX:138687052G>A	ENST00000370576.4	-	14	1858	c.1649C>T	c.(1648-1650)gCa>gTa	p.A550V	MCF2_ENST00000536274.1_Missense_Mutation_p.A511V|MCF2_ENST00000338585.6_Missense_Mutation_p.A566V|MCF2_ENST00000414978.1_Missense_Mutation_p.A610V|MCF2_ENST00000519895.1_Missense_Mutation_p.A626V|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000370573.4_Missense_Mutation_p.A550V|MCF2_ENST00000520602.1_Missense_Mutation_p.A610V|MCF2_ENST00000370578.4_Missense_Mutation_p.A695V	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	550	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A550V(2)|p.A626V(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATATATTTCTGCCATGTTTCC	0.313																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(1648-1650)GCA>GTA		MCF.2 cell line derived transforming sequence							124.0	112.0	116.0					X																	138687052		2203	4298	6501	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138687052G>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1649C>T	X.37:g.138687052G>A	ENSP00000359608:p.Ala550Val					MCF2_uc004fav.2_Missense_Mutation_p.A566V|MCF2_uc011mwl.1_Missense_Mutation_p.A527V|MCF2_uc010nsh.1_Missense_Mutation_p.A550V|MCF2_uc011mwm.1_Missense_Mutation_p.A511V|MCF2_uc011mwn.1_Missense_Mutation_p.A695V|MCF2_uc004faw.2_Missense_Mutation_p.A610V|MCF2_uc011mwo.1_Missense_Mutation_p.A626V	p.A550V	NM_005369	NP_005360	P10911	MCF2_HUMAN			14	1943	-	Acute lymphoblastic leukemia(192;0.000127)		550			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1649C>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509680	0.44660	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.46	5.46	0.80206	Dbl homology (DH) domain (5);	0.051050	0.85682	D	0.000000	T	0.54565	0.1866	N	0.19112	0.55	0.41120	D	0.985809	B;P;B;B;B;B;P;B	0.38473	0.155;0.633;0.214;0.254;0.214;0.254;0.58;0.254	B;B;B;B;B;B;B;B	0.42030	0.158;0.345;0.098;0.158;0.098;0.158;0.373;0.158	T	0.61540	-0.7042	10	0.66056	D	0.02	.	17.2486	0.87035	0.0:0.0:1.0:0.0	.	626;695;511;550;550;695;566;550	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	V	610;550;511;695;610;153;626;550;566	ENSP00000427745:A610V;ENSP00000359608:A550V;ENSP00000438155:A511V;ENSP00000359610:A695V;ENSP00000397055:A610V;ENSP00000405848:A153V;ENSP00000430276:A626V;ENSP00000359605:A550V;ENSP00000342204:A566V	ENSP00000342204:A566V	A	-	2	0	MCF2	138514718	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	9.344000	0.97050	2.286000	0.76751	0.544000	0.68410	GCA		PASS	0.313	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		14	152	14	152	---	---	---	---
F8	2157	broad.mit.edu	37	X	154189424	154189424	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chrX:154189424G>T	ENST00000360256.4	-	10	1663	c.1463C>A	c.(1462-1464)gCa>gAa	p.A488E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	488	F5/8 type A 2.|Plastocyanin-like 3.		A -> G (in HEMA; moderate).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.A488E(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGGTCTGCTTGCTTGATTCTT	0.363																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CI054458|CM010850|CM950399|HM070049	F8	I|M		c.(1462-1464)GCA>GAA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						129.0	115.0	120.0					X																	154189424		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154189424G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1463C>A	X.37:g.154189424G>T	ENSP00000353393:p.Ala488Glu						p.A488E	NM_000132	NP_000123	P00451	FA8_HUMAN			10	1634	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		488		A -> G (in HEMA; moderate).	F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1463C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289981	0.80914	.	.	ENSG00000185010	ENST00000360256	D	0.99503	-6.03	4.92	4.92	0.64577	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	M	0.81179	2.53	0.44439	D	0.997362	D	0.89917	1.0	D	0.91635	0.999	D	0.98444	1.0588	10	0.87932	D	0	-17.1192	15.771	0.78167	0.0:0.0:1.0:0.0	.	488	P00451	FA8_HUMAN	E	488	ENSP00000353393:A488E	ENSP00000353393:A488E	A	-	2	0	F8	153842618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.587000	0.90810	2.016000	0.59253	0.594000	0.82650	GCA		PASS	0.363	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			10	58	10	58	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						uc001ffp.2																			2	Insertion - In frame(2)		prostate(2)	lung(1)	1						c.(241-243)CCA>CAGCAGCCA		small conductance calcium-activated potassium																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.236_241dupAGCAGC	1.37:g.154842200_154842205dupGCTGCT	ENSP00000271915:p.Gln79_Gln80dup					KCNN3_uc009wox.1_In_Frame_Ins_p.80_81insQQ	p.80_81insQQ	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	555_556	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80_86					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGCAGC	CCDS30880.1																																																																																					0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	3	5	3	---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104638211	104638211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-85-6175-01A-11D-1817-08	TCGA-85-6175-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ba53bf0-a4e1-4b46-b258-610522aac7ee	4ced20e8-5370-451e-be81-d6a1f6b97a33	g.chr14:104638211delC	ENST00000423312.2	+	6	1265	c.1265delC	c.(1264-1266)gccfs	p.A422fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.A283fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	422	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGGCGAGCCGCCACTGCTGCA	0.682																																						uc001yos.3																			0				pancreas(1)	1						c.(1264-1266)GCCfs		kinesin family member 26A							12.0	15.0	14.0					14																	104638211		2028	4096	6124	SO:0001589	frameshift_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104638211delC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1265delC	14.37:g.104638211delC	ENSP00000388241:p.Ala422fs						p.A422fs	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	6	1265	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	422			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	ENST00000423312.2	37	c.1265delC	CCDS45171.1																																																																																					0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			4	2	4	2	---	---	---	---
