#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		7	484	0	0	0	1	0	7	484				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	10	182	0	0	0	1	0	10	182				
TENM1	10178	broad.mit.edu	37	X	123518249	123518249	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:123518249G>A	ENST00000371130.3	-	29	6574	c.6511C>T	c.(6511-6513)Cgt>Tgt	p.R2171C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.R2178C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2171					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TAACTATAACGCCACTGGGTT	0.448																																						ENST00000422452.2																			0											c.(6532-6534)Cgt>Tgt		teneurin transmembrane protein 1							139.0	128.0	131.0					X																	123518249		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123518249G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6511C>T	X.37:g.123518249G>A	ENSP00000360171:p.Arg2171Cys					TENM1_ENST00000371130.3_Missense_Mutation_p.R2171C|STAG2_ENST00000469481.1_Intron	p.R2178C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6595	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6532C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899242	0.52227	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87334	-2.24;-2.21	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.996	D	0.95036	0.8174	10	0.87932	D	0	.	18.4768	0.90795	0.0:0.0:1.0:0.0	.	2177;2178;2171	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	2171;2178	ENSP00000360171:R2171C;ENSP00000403954:R2178C	ENSP00000360171:R2171C	R	-	1	0	ODZ1	123345930	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.271000	0.65553	2.304000	0.77564	0.544000	0.68410	CGT		0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		15	292	0	0	0	1	0	15	292				
ERBB3	2065	broad.mit.edu	37	12	56480377	56480377	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56480377G>T	ENST00000267101.3	+	4	924	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D103Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	162					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGACACAATTGACTGGAGGGA	0.502																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(484-486)Gac>Tac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							269.0	222.0	238.0					12																	56480377		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56480377G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.484G>T	12.37:g.56480377G>T	ENSP00000267101:p.Asp162Tyr					ERBB3_ENST00000415288.2_Missense_Mutation_p.D103Y|ERBB3_ENST00000450146.2_Intron	p.D162Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		4	924	+			162					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.484G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546455	0.13312	.	.	ENSG00000065361	ENST00000549061;ENST00000267101;ENST00000394099;ENST00000549672;ENST00000415288	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.81	5.81	0.92471	EGF receptor, L domain (1);	0.073073	0.56097	D	0.000028	T	0.80188	0.4577	M	0.66439	2.03	0.80722	D	1	P	0.38863	0.65	B	0.33392	0.163	T	0.78157	-0.2313	10	0.22706	T	0.39	.	17.0026	0.86384	0.0:0.0:1.0:0.0	.	162	P21860	ERBB3_HUMAN	Y	103;162;162;103;103	ENSP00000449138:D103Y;ENSP00000267101:D162Y;ENSP00000449713:D103Y;ENSP00000408340:D103Y	ENSP00000267101:D162Y	D	+	1	0	ERBB3	54766644	0.848000	0.29623	0.998000	0.56505	0.995000	0.86356	1.181000	0.32017	2.753000	0.94483	0.650000	0.86243	GAC		0.502	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			8	586	1	0	1.33987e-11	1	1.42324e-11	8	586				
TEX14	56155	broad.mit.edu	37	17	56663333	56663333	+	Missense_Mutation	SNP	C	C	T	rs201086325		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:56663333C>T	ENST00000240361.8	-	18	3002	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	TEX14_ENST00000349033.5_Missense_Mutation_p.A967T|TEX14_ENST00000389934.3_Missense_Mutation_p.A967T			Q8IWB6	TEX14_HUMAN	testis expressed 14	973					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAGCAGGGCGTCGGGCTCA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		17724	0.001		0.0	False		,,,				2504	0.0					ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(2899-2901)Gcc>Acc		testis expressed 14		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	140.0	140.0	140.0		2917,2899,2899	0.5	0.0	17		140	0,8600		0,0,4300	no	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	973/1498,967/1452,967/1492	56663333	1,13005	2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56663333C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2917G>A	17.37:g.56663333C>T	ENSP00000240361:p.Ala973Thr					TEX14_ENST00000349033.5_Missense_Mutation_p.A967T|TEX14_ENST00000240361.8_Missense_Mutation_p.A973T	p.A967T	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			18	3016	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		973					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2899G>A	CCDS56042.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.33	3.094030	0.56075	2.27E-4	0.0	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.81163	-1.46;-1.46;-1.42	5.38	0.501	0.16925	.	0.525270	0.18903	N	0.128000	T	0.63283	0.2498	L	0.29908	0.895	0.09310	N	1	P;P;P	0.49185	0.87;0.92;0.92	B;B;B	0.40165	0.171;0.321;0.321	T	0.56872	-0.7907	10	0.40728	T	0.16	-1.9391	4.4542	0.11635	0.2296:0.3843:0.3861:0.0	.	973;967;967	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	T	973;967;967	ENSP00000240361:A973T;ENSP00000374584:A967T;ENSP00000268910:A967T	ENSP00000240361:A973T	A	-	1	0	TEX14	54018332	0.000000	0.05858	0.026000	0.17262	0.021000	0.10359	-0.221000	0.09202	0.601000	0.29879	-0.311000	0.09066	GCC		0.507	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			8	717	0	0	0	1	0	8	717				
SLC8A3	6547	broad.mit.edu	37	14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1399-1401)gGc>gAc		solute carrier family 8 (sodium/calcium exchanger), member 3							166.0	166.0	166.0					14																	70633740		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633740C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1400G>A	14.37:g.70633740C>T	ENSP00000370669:p.Gly467Asp					SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D	p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2153	-			467			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1400G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002330	0.35320	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.53	5.53	0.82687	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.35593	1.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.15492	-1.0435	10	0.25106	T	0.35	.	19.463	0.94927	0.0:1.0:0.0:0.0	.	467;467;467;467	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	D	467	ENSP00000349392:G467D;ENSP00000370669:G467D;ENSP00000350560:G467D;ENSP00000436688:G467D;ENSP00000433531:G467D	ENSP00000349392:G467D	G	-	2	0	SLC8A3	69703493	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	4.980000	0.63812	2.587000	0.87381	0.643000	0.83706	GGC		0.517	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			8	1119	0	0	0	1	0	8	1119				
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A	rs62035609		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	27						integral component of membrane (GO:0016021)		p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577																																						ENST00000524087.1																			24	Substitution - coding silent(24)	p.H27H(24)	endometrium(22)|kidney(2)								c.(79-81)caC>caT		nuclear pore complex interacting protein family, member B11																																				SO:0001819	synonymous_variant	728888							g.chr16:29415043G>A			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.81C>T	16.37:g.29415043G>A						SNX29P2_ENST00000398878.3_lincRNA	p.H27H							2	155	-									Silent	SNP	ENST00000524087.1	37	c.81C>T																																																																																					0.577	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		4	66	0	0	0	1	0	4	66				
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388													.|||	851	0.169928	0.1914	0.183	5008	,	,		15991	0.0982		0.2634	False		,,,				2504	0.1094					ENST00000453498.1																			0																																																			0							g.chr13:25168501G>A																													13.37:g.25168501G>A														0	1173	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	173	0	0	0	1	0	4	173				
DCAF4L2	138009	broad.mit.edu	37	8	88885973	88885973	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:88885973C>T	ENST00000319675.3	-	1	323	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	76										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGCCAGTATGCGGTTAAATCG	0.542																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(226-228)cGc>cAc		DDB1 and CUL4 associated factor 4-like 2							152.0	139.0	144.0					8																	88885973		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885973C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.227G>A	8.37:g.88885973C>T	ENSP00000316496:p.Arg76His						p.R76H	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	323	-			76						Missense_Mutation	SNP	ENST00000319675.3	37	c.227G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	9.340	1.062857	0.19987	.	.	ENSG00000176566	ENST00000319675	T	0.71698	-0.59	1.92	0.587	0.17439	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.229319	0.46442	D	0.000300	T	0.40570	0.1122	N	0.08118	0	0.09310	N	1	P	0.46395	0.877	B	0.37198	0.243	T	0.42361	-0.9456	10	0.44086	T	0.13	.	4.9342	0.13932	0.6691:0.3309:0.0:0.0	.	76	Q8NA75	DC4L2_HUMAN	H	76	ENSP00000316496:R76H	ENSP00000316496:R76H	R	-	2	0	DCAF4L2	88955089	0.977000	0.34250	0.003000	0.11579	0.044000	0.14063	0.144000	0.16135	-0.170000	0.10816	-0.706000	0.03657	CGC		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		6	501	0	0	0	1	0	6	501				
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		insulin receptor substrate 1							30.0	40.0	37.0					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_ENST00000498335.1_5'UTR	p.P1203P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4629	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	122	0	0	0	1	0	8	122				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		6	80	0	0	0	1	0	6	80				
TNKS1BP1	85456	broad.mit.edu	37	11	57076887	57076887	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:57076887C>T	ENST00000532437.1	-	5	3609	c.3298G>A	c.(3298-3300)Gca>Aca	p.A1100T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1100T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1100	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAATGCTGCCTCTCGCTGG	0.607																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3298-3300)Gca>Aca		tankyrase 1 binding protein 1, 182kDa							80.0	70.0	74.0					11																	57076887		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076887C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3298G>A	11.37:g.57076887C>T	ENSP00000437271:p.Ala1100Thr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1100T	p.A1100T			Q9C0C2	TB182_HUMAN			5	3609	-		all_epithelial(135;0.21)	1100			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3298G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	8.741	0.918881	0.17982	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.31769	1.48;1.48	5.05	-0.935	0.10423	.	1.600840	0.03626	N	0.237178	T	0.24044	0.0582	L	0.44542	1.39	0.09310	N	1	B	0.23937	0.094	B	0.23419	0.046	T	0.15009	-1.0452	10	0.26408	T	0.33	0.0635	3.3819	0.07257	0.1927:0.3151:0.0:0.4922	.	1100	Q9C0C2	TB182_HUMAN	T	1100	ENSP00000350990:A1100T;ENSP00000437271:A1100T	ENSP00000350990:A1100T	A	-	1	0	TNKS1BP1	56833463	0.000000	0.05858	0.005000	0.12908	0.056000	0.15407	-1.427000	0.02441	-0.048000	0.13401	-0.379000	0.06801	GCA		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		30	324	0	0	0	1	0	30	324				
CRIM1	51232	broad.mit.edu	37	2	36726453	36726453	+	Silent	SNP	C	C	T	rs375356337		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:36726453C>T	ENST00000280527.2	+	8	1831	c.1464C>T	c.(1462-1464)cgC>cgT	p.R488R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	488	Antistasin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00582}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAAACGCGATCACAATG	0.408																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1462-1464)cgC>cgT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							151.0	137.0	142.0					2																	36726453		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36726453C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1464C>T	2.37:g.36726453C>T							p.R488R	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			8	1831	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	488			Antistasin-like 1.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.1464C>T	CCDS1783.1																																																																																				0.408	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		56	456	0	0	0	1	0	56	456				
ALS2CL	259173	broad.mit.edu	37	3	46718503	46718503	+	Silent	SNP	G	G	A	rs375239761		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:46718503G>A	ENST00000318962.4	-	17	1850	c.1767C>T	c.(1765-1767)ggC>ggT	p.G589G	ALS2CL_ENST00000415953.1_Silent_p.G589G|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	589					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCACCCACGCCCAGCTGCC	0.677																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1765-1767)ggC>ggT		ALS2 C-terminal like		A	,,	0,4406		0,0,2203	38.0	47.0	44.0		1767,1767,	-9.3	0.0	3		44	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous,utr-5	ALS2CL	NM_001190707.1,NM_147129.3,NM_182775.2	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	589/954,589/954,	46718503	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46718503G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1767C>T	3.37:g.46718503G>A						ALS2CL_ENST00000415953.1_Silent_p.G589G|ALS2CL_ENST00000383742.3_5'UTR	p.G589G	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	17	1850	-			589					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.1767C>T	CCDS2743.1																																																																																				0.677	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		5	283	0	0	0	1	0	5	283				
MAML3	55534	broad.mit.edu	37	4	140810661	140810661	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:140810661C>T	ENST00000509479.2	-	2	2785	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	MAML3_ENST00000398940.1_Silent_p.Q171Q|MAML3_ENST00000327122.5_Silent_p.Q487Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgttgctgtt	0.587																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1927-1929)caG>caA		mastermind-like 3 (Drosophila)							46.0	58.0	54.0					4																	140810661		2196	4300	6496	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810661C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1929G>A	4.37:g.140810661C>T						MAML3_ENST00000327122.5_Silent_p.Q487Q|MAML3_ENST00000398940.1_Silent_p.Q171Q	p.Q643Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2785	-	all_hematologic(180;0.162)		639			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1929G>A	CCDS54805.1																																																																																				0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	202	0	0	0	1	0	5	202				
TINF2	26277	broad.mit.edu	37	14	24709046	24709046	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:24709046G>T	ENST00000267415.7	-	9	1654	c.1313C>A	c.(1312-1314)cCt>cAt	p.P438H	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.P403H|TINF2_ENST00000399423.4_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	438					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GGAAGAAACAGGTATGGCACC	0.458									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000267415.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(1312-1314)cCt>cAt		TERF1 (TRF1)-interacting nuclear factor 2							86.0	88.0	87.0					14																	24709046		1909	4124	6033	SO:0001583	missense	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24709046G>T	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1313C>A	14.37:g.24709046G>T	ENSP00000267415:p.Pro438His					TINF2_ENST00000540705.1_Missense_Mutation_p.P403H|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_3'UTR	p.P438H	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	9	1654	-			438					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.1313C>A	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828471	0.32329	.	.	ENSG00000092330	ENST00000267415;ENST00000540705	D;D	0.84660	-1.88;-1.88	5.49	2.15	0.27550	.	1.805250	0.04023	U	0.300076	T	0.79707	0.4492	N	0.19112	0.55	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.47376	0.545;0.545	T	0.69117	-0.5230	10	0.62326	D	0.03	1.8398	5.8468	0.18671	0.1971:0.1654:0.6375:0.0	.	403;438	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	H	438;403	ENSP00000267415:P438H;ENSP00000442154:P403H	ENSP00000267415:P438H	P	-	2	0	TINF2	23778886	0.004000	0.15560	0.001000	0.08648	0.016000	0.09150	1.259000	0.32956	0.641000	0.30601	0.563000	0.77884	CCT		0.458	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			38	265	1	0	2.05212e-20	1	2.18954e-20	38	265				
PLIN4	729359	broad.mit.edu	37	19	4511956	4511956	+	Silent	SNP	G	G	A	rs539563816		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:4511956G>A	ENST00000301286.3	-	3	1973	c.1974C>T	c.(1972-1974)acC>acT	p.T658T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	658	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCACAGCACTGGTCACCCCAC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24918	0.0		0.0	False		,,,				2504	0.0					ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1972-1974)acC>acT		perilipin 4							95.0	104.0	101.0					19																	4511956		2048	4186	6234	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511956G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1974C>T	19.37:g.4511956G>A							p.T658T	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1973	-			658			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1974C>T	CCDS45927.1																																																																																				0.582	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		61	539	0	0	0	1	0	61	539				
HLA-DQB2	3120	broad.mit.edu	37	6	32726819	32726819	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32726819C>T	ENST00000437316.2	-	3	517	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.A152T|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152T			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	156	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TTGATCTGGGCTGGATAGAAA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(454-456)Gcc>Acc		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32726819C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.454G>A	6.37:g.32726819C>T	ENSP00000396330:p.Ala152Thr					HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152T|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A152T	p.A152T			Q5SR06	Q5SR06_HUMAN			3	515	-			152					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.454G>A		.	.	.	.	.	.	.	.	.	.	C	13.21	2.168969	0.38315	.	.	ENSG00000232629	ENST00000437316;ENST00000435145;ENST00000411527	T;T;T	0.02944	4.1;4.1;4.1	3.43	0.378	0.16204	.	0.976288	0.08313	U	0.965027	T	0.02380	0.0073	M	0.90922	3.16	0.20821	N	0.999847	B;B	0.30889	0.172;0.299	B;B	0.32211	0.098;0.142	T	0.38286	-0.9668	10	0.87932	D	0	.	3.3302	0.07082	0.0:0.3671:0.2108:0.4221	rs35275462	152;152	A2ADX3;Q5SR06	.;.	T	152	ENSP00000396330:A152T;ENSP00000410512:A152T;ENSP00000390431:A152T	ENSP00000390431:A152T	A	-	1	0	HLA-DQB2	32834797	0.000000	0.05858	0.966000	0.40874	0.765000	0.43378	-0.639000	0.05446	0.211000	0.20683	0.491000	0.48974	GCC		0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			7	189	0	0	0	1	0	7	189				
CDC27	996	broad.mit.edu	37	17	45234625	45234625	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V201I(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCCGTAAGAACTGTCTCAGGC	0.338																																						ENST00000066544.3																			2	Substitution - Missense(2)	p.V201I(2)	kidney(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(601-603)Gtt>Att		cell division cycle 27							58.0	59.0	59.0					17																	45234625		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234625C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.601G>A	17.37:g.45234625C>T	ENSP00000066544:p.Val201Ile					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I	p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	694	-			201					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.601G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164668	0.38217	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.23;0.02;-0.25;0.85	5.11	5.11	0.69529	.	0.065071	0.64402	D	0.000010	T	0.52805	0.1757	N	0.24115	0.695	0.53688	D	0.999973	B;B;B;B	0.22211	0.031;0.053;0.066;0.031	B;B;B;B	0.20577	0.024;0.022;0.03;0.01	T	0.47923	-0.9079	10	0.22109	T	0.4	-10.941	16.0383	0.80645	0.0:1.0:0.0:0.0	.	140;201;201;201	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	201;201;140;201;201	ENSP00000066544:V201I;ENSP00000434614:V201I;ENSP00000392802:V140I;ENSP00000437339:V201I;ENSP00000432105:V201I	ENSP00000066544:V201I	V	-	1	0	CDC27	42589624	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.951000	0.75983	2.391000	0.81399	0.557000	0.71058	GTT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			6	330	0	0	0	1	0	6	330				
TLR8	51311	broad.mit.edu	37	X	12939864	12939864	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:12939864G>A	ENST00000218032.6	+	2	2792	c.2705G>A	c.(2704-2706)cGc>cAc	p.R902H	TLR8_ENST00000311912.5_Missense_Mutation_p.R920H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	902	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AATGAGCTGCGCTACCACCTT	0.478																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2704-2706)cGc>cAc		toll-like receptor 8							123.0	120.0	121.0					X																	12939864		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939864G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2705G>A	X.37:g.12939864G>A	ENSP00000218032:p.Arg902His					TLR8_ENST00000311912.5_Missense_Mutation_p.R920H	p.R902H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	2792	+			902			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2705G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604067	0.66445	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.08102	3.13;3.13	5.97	5.1	0.69264	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.38959	N	0.001508	T	0.26702	0.0653	M	0.78637	2.42	0.44595	D	0.997569	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.01215	-1.1416	10	0.66056	D	0.02	.	8.7627	0.34685	0.08:0.0:0.7253:0.1947	.	902;920	Q9NR97;D1CS70	TLR8_HUMAN;.	H	902;920	ENSP00000218032:R902H;ENSP00000312082:R920H	ENSP00000218032:R902H	R	+	2	0	TLR8	12849785	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.451000	0.80668	1.282000	0.44496	0.600000	0.82982	CGC		0.478	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		67	310	0	0	0	1	0	67	310				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	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.S157S(5)		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)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	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						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	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.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S157S	NM_004529.2	NP_004520.2	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	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	141	0	0	0	1	0	5	141				
DGKH	160851	broad.mit.edu	37	13	42764629	42764629	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:42764629C>A	ENST00000337343.4	+	16	2024	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	DGKH_ENST00000540693.1_Missense_Mutation_p.A668D|DGKH_ENST00000261491.5_Missense_Mutation_p.A668D|DGKH_ENST00000538674.1_Missense_Mutation_p.A423D|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.A532D|DGKH_ENST00000379274.2_Missense_Mutation_p.A532D	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	668					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AAGGAGGAAGCTAAAGATGAT	0.373																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1594-1596)gCt>gAt		diacylglycerol kinase, eta							107.0	102.0	104.0					13																	42764629		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42764629C>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2003C>A	13.37:g.42764629C>A	ENSP00000337572:p.Ala668Asp					DGKH_ENST00000538674.1_Missense_Mutation_p.A423D|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.A668D|DGKH_ENST00000261491.4_Missense_Mutation_p.A668D|DGKH_ENST00000536612.1_Missense_Mutation_p.A532D|DGKH_ENST00000540693.1_Missense_Mutation_p.A668D	p.A532D			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	16	2024	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	668					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1595C>A	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.132353	0.01756	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.79749	-1.3;-1.13;-1.3;-1.3;-1.3;1.95	4.33	-1.13	0.09775	.	3.830580	0.00397	N	0.000049	T	0.56232	0.1971	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.45279	-0.9272	10	0.26408	T	0.33	.	0.5744	0.00701	0.2823:0.3223:0.1171:0.2784	.	423;532;668;668	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	D	668;668;668;532;532;423	ENSP00000440823:A668D;ENSP00000337572:A668D;ENSP00000261491:A668D;ENSP00000368576:A532D;ENSP00000445114:A532D;ENSP00000441308:A423D	ENSP00000261491:A668D	A	+	2	0	DGKH	41662629	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.070000	0.14573	-0.164000	0.10927	-0.482000	0.04802	GCT		0.373	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		39	457	1	0	3.38236e-24	1	3.64137e-24	39	457				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	205	0	0	0	1	0	5	205				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	176	0	0	0	1	0	4	176				
LCT	3938	broad.mit.edu	37	2	136567237	136567237	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:136567237C>T	ENST00000264162.2	-	8	2690	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	894	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAATCTCTTTCGAACTTGGGT	0.517																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2680-2682)Gaa>Aaa		lactase							118.0	124.0	122.0					2																	136567237		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567237C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2680G>A	2.37:g.136567237C>T	ENSP00000264162:p.Glu894Lys						p.E894K	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2690	-			894			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2680G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847176	0.71603	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.29917	1.55	5.78	5.78	0.91487	.	0.148918	0.64402	D	0.000012	T	0.59032	0.2164	M	0.78049	2.395	0.51767	D	0.999935	D	0.67145	0.996	D	0.67231	0.95	T	0.61113	-0.7128	10	0.72032	D	0.01	-28.1342	20.0139	0.97470	0.0:1.0:0.0:0.0	.	894	P09848	LPH_HUMAN	K	894;326	ENSP00000264162:E894K	ENSP00000264162:E894K	E	-	1	0	LCT	136283707	0.995000	0.38212	1.000000	0.80357	0.647000	0.38526	1.529000	0.35996	2.724000	0.93272	0.563000	0.77884	GAA		0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		51	593	0	0	0	1	0	51	593				
EP300	2033	broad.mit.edu	37	22	41542773	41542773	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:41542773G>A	ENST00000263253.7	+	11	3303	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	695					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTATGATCCGTGGCAGTGTG	0.393			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(2083-2085)cGt>cAt		E1A binding protein p300							97.0	94.0	95.0					22																	41542773		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41542773G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2084G>A	22.37:g.41542773G>A	ENSP00000263253:p.Arg695His						p.R695H	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			11	3303	+			695					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.2084G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538907	0.96474	.	.	ENSG00000100393	ENST00000263253	D	0.83914	-1.78	5.77	5.77	0.91146	.	0.132950	0.34178	N	0.004196	D	0.85703	0.5758	N	0.24115	0.695	0.58432	D	0.999998	D	0.76494	0.999	D	0.71656	0.974	D	0.84199	0.0449	10	0.33141	T	0.24	-2.4217	19.9922	0.97370	0.0:0.0:1.0:0.0	.	695	Q09472	EP300_HUMAN	H	695	ENSP00000263253:R695H	ENSP00000263253:R695H	R	+	2	0	EP300	39872719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.683000	0.91236	2.729000	0.93468	0.563000	0.77884	CGT		0.393	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		29	626	0	0	0	1	0	29	626				
FAM208A	23272	broad.mit.edu	37	3	56667404	56667404	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:56667404T>G	ENST00000493960.2	-	18	3425	c.3415A>C	c.(3415-3417)Agt>Cgt	p.S1139R	FAM208A_ENST00000355628.5_Missense_Mutation_p.S1078R|FAM208A_ENST00000431842.2_Missense_Mutation_p.S702R	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1139							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAAGGATCACTACACAGTGGC	0.433																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(2104-2106)Agt>Cgt		family with sequence similarity 208, member A							154.0	146.0	149.0					3																	56667404		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56667404T>G	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3415A>C	3.37:g.56667404T>G	ENSP00000417509:p.Ser1139Arg					FAM208A_ENST00000355628.5_Missense_Mutation_p.S1078R|FAM208A_ENST00000493960.2_Missense_Mutation_p.S1139R	p.S702R	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			11	3028	-			1139					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.2104A>C	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069995	0.36566	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12361	2.69;2.9;2.88	5.71	1.68	0.24146	.	0.520353	0.21811	N	0.068775	T	0.10337	0.0253	L	0.46157	1.445	0.21020	N	0.999808	B;B;B;B	0.24721	0.029;0.11;0.008;0.065	B;B;B;B	0.20767	0.015;0.031;0.015;0.017	T	0.21895	-1.0232	10	0.54805	T	0.06	-5.9455	3.752	0.08570	0.1331:0.0723:0.1307:0.6639	.	1139;1078;702;1139	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	R	702;1139;1078	ENSP00000399410:S702R;ENSP00000417509:S1139R;ENSP00000347845:S1078R	ENSP00000347845:S1078R	S	-	1	0	C3orf63	56642444	0.020000	0.18652	0.995000	0.50966	0.969000	0.65631	0.933000	0.28897	0.487000	0.27698	0.528000	0.53228	AGT		0.433	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		81	511	0	0	0	1	0	81	511				
NBPF8	728841	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G	rs587673408	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:144220816A>G	ENST00000369373.5	+	2	83	c.83A>G	c.(82-84)gAg>gGg	p.E28G				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	668						cytoplasm (GO:0005737)											GATGAGAAAGAGCCTGAAGTC	0.483													.|||	167	0.0333466	0.1097	0.0115	5008	,	,		50002	0.001		0.006	False		,,,				2504	0.0072					ENST00000369373.5																			0											c.(82-84)gAg>gGg		neuroblastoma breakpoint family, member 8																																				SO:0001583	missense	728841							g.chr1:144220816A>G	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.83A>G	1.37:g.144220816A>G	ENSP00000358380:p.Glu28Gly						p.E28G							2	83	+									Missense_Mutation	SNP	ENST00000369373.5	37	c.83A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.213|8.213	0.800676|0.800676	0.16397|0.16397	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.15603|.	2.41|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	.|.	.|.	.|.	B;B;.;B;B|.	0.23316|.	0.0;0.001;.;0.083;0.002|.	B;B;.;B;B|.	0.34038|.	0.0;0.003;.;0.174;0.011|.	T|.	0.29610|.	-1.0006|.	3|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	434;30;601;376;443|.	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.;.|.	G|G	28|3579	ENSP00000358380:E28G|.	.|.	E|S	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932173|142932173	0.724000|0.724000	0.28038|0.28038	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAG|AGC		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	1159	0	0	0	1	0	7	1159				
RAX2	84839	broad.mit.edu	37	19	3771573	3771573	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:3771573G>T	ENST00000555633.1	-	2	508	c.168C>A	c.(166-168)agC>agA	p.S56R	RAX2_ENST00000555978.1_Missense_Mutation_p.S56R			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	56					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTCACGGCTGTACACAT	0.627																																						ENST00000555633.1																			0				large_intestine(1)	1						c.(166-168)agC>agA		retina and anterior neural fold homeobox 2							60.0	48.0	52.0					19																	3771573		2197	4297	6494	SO:0001583	missense	84839				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3771573G>T	AY211277	CCDS12112.1	19p13.3	2013-06-06	2007-08-28	2007-08-28				"""Homeoboxes / PRD class"""	18286	protein-coding gene	gene with protein product		610362	"""retina and anterior neural fold homeobox like 1"""	RAXL1			Standard	NM_032753		Approved	MGC15631, ARMD6, CORD11	uc002lys.3	Q96IS3		ENST00000555633.1:c.168C>A	19.37:g.3771573G>T	ENSP00000450456:p.Ser56Arg					RAX2_ENST00000555978.1_Missense_Mutation_p.S56R	p.S56R			Q96IS3	RAX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	2	508	-		Hepatocellular(1079;0.137)	56						Missense_Mutation	SNP	ENST00000555633.1	37	c.168C>A	CCDS12112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.87|17.87	3.496105|3.496105	0.64186|0.64186	.|.	.|.	ENSG00000173976|ENSG00000173976	ENST00000555978|ENST00000555633;ENST00000395106	.|D	.|0.95035	.|-3.59	3.52|3.52	1.26|1.26	0.21427|0.21427	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.37304	.|U	.|0.002147	D|D	0.90259|0.90259	0.6954|0.6954	N|N	0.03194|0.03194	-0.395|-0.395	0.51233|0.51233	D|D	0.999912|0.999912	.|D;D	.|0.61697	.|0.99;0.958	.|D;P	.|0.66979	.|0.948;0.824	D|D	0.87913|0.87913	0.2698|0.2698	5|10	.|0.72032	.|D	.|0.01	.|.	6.8196|6.8196	0.23849|0.23849	0.3119:0.0:0.688:0.0|0.3119:0.0:0.688:0.0	.|.	.|56;102	.|Q96IS3;G3V243	.|RAX2_HUMAN;.	T|R	76|102;56	.|ENSP00000450456:S102R	.|ENSP00000378538:S56R	P|S	-|-	1|3	0|2	RAX2|RAX2	3722573|3722573	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.894000|0.894000	0.52154|0.52154	2.372000|2.372000	0.44257|0.44257	0.468000|0.468000	0.27243|0.27243	0.561000|0.561000	0.74099|0.74099	CCG|AGC		0.627	RAX2-001	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411919.2	NM_032753		5	46	1	0	3.59834e-05	1	3.72295e-05	5	46				
SEC23A	10484	broad.mit.edu	37	14	39524367	39524367	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:39524367C>T	ENST00000307712.6	-	14	2156	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	SEC23A_ENST00000536508.1_Missense_Mutation_p.D421N|SEC23A_ENST00000537403.1_Missense_Mutation_p.D345N|SEC23A_ENST00000545328.2_Missense_Mutation_p.D518N	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	547					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGCTGTCTGTCCAGCCACCTA	0.418																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1033-1035)Gac>Aac		Sec23 homolog A (S. cerevisiae)							131.0	124.0	126.0					14																	39524367		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39524367C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1639G>A	14.37:g.39524367C>T	ENSP00000306881:p.Asp547Asn					SEC23A_ENST00000545328.2_Missense_Mutation_p.D518N|SEC23A_ENST00000536508.1_Missense_Mutation_p.D421N|SEC23A_ENST00000307712.6_Missense_Mutation_p.D547N	p.D345N			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	10	2235	-	Hepatocellular(127;0.213)		547					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.1033G>A	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354537	0.95854	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.81	4.93	0.64822	Sec23/Sec24, helical domain (2);	0.151418	0.64402	N	0.000016	D	0.99026	0.9667	H	0.97390	3.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99120	1.0849	10	0.87932	D	0	-14.9158	14.8974	0.70654	0.0:0.9311:0.0:0.0689	.	518;421;547	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	N	345;547;421;518	ENSP00000444193:D345N;ENSP00000306881:D547N;ENSP00000437715:D421N;ENSP00000445393:D518N	ENSP00000306881:D547N	D	-	1	0	SEC23A	38594118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.653000	0.83643	1.461000	0.47929	0.551000	0.68910	GAC		0.418	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			6	524	0	0	0	1	0	6	524				
IRF7	3665	broad.mit.edu	37	11	613572	613572	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:613572C>T	ENST00000397574.2	-	9	1240	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	IRF7_ENST00000525445.1_Missense_Mutation_p.V185M|IRF7_ENST00000397562.3_De_novo_Start_InFrame|IRF7_ENST00000348655.6_Missense_Mutation_p.V262M|IRF7_ENST00000397570.1_Missense_Mutation_p.V262M|IRF7_ENST00000397566.1_Missense_Mutation_p.V304M|IRF7_ENST00000330243.5_Missense_Mutation_p.V304M	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	291					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGATGGTCACGTCCAGCGCC	0.682																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(910-912)Gtg>Atg		interferon regulatory factor 7							11.0	14.0	13.0					11																	613572		2069	4149	6218	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613572C>T	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.871G>A	11.37:g.613572C>T	ENSP00000380704:p.Val291Met					IRF7_ENST00000397570.1_Missense_Mutation_p.V262M|IRF7_ENST00000348655.6_Missense_Mutation_p.V262M|IRF7_ENST00000330243.5_Missense_Mutation_p.V304M|IRF7_ENST00000397562.3_De_novo_Start_InFrame|IRF7_ENST00000397574.2_Missense_Mutation_p.V291M|IRF7_ENST00000525445.1_Missense_Mutation_p.V185M	p.V304M	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	1319	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	291					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.910G>A	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491677	0.44249	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	4.0	3.06	0.35304	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.599107	0.16746	N	0.201252	D	0.96513	0.8862	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.997;0.997	D;P;P;P	0.71870	0.975;0.78;0.835;0.847	D	0.95215	0.8329	10	0.87932	D	0	-22.3084	7.8587	0.29497	0.1718:0.738:0.0:0.0902	.	185;262;291;304	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	M	185;262;262;304;291;304	ENSP00000434009:V185M;ENSP00000331803:V262M;ENSP00000380700:V262M;ENSP00000380697:V304M;ENSP00000380704:V291M;ENSP00000329411:V304M	ENSP00000329411:V304M	V	-	1	0	IRF7	603572	0.009000	0.17119	0.994000	0.49952	0.212000	0.24457	-0.038000	0.12144	0.984000	0.38629	0.491000	0.48974	GTG		0.682	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		9	152	0	0	0	1	0	9	152				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			12	174	0	0	0	1	0	12	174				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			6	321	0	0	0	1	0	6	321				
MAP7D3	79649	broad.mit.edu	37	X	135314079	135314079	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:135314079G>A	ENST00000316077.9	-	8	1257	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.S328L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.S311L|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	346					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACCACAGGCGACACGTCCAC	0.572																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1036-1038)tCg>tTg		MAP7 domain containing 3							98.0	101.0	100.0					X																	135314079		2186	4251	6437	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314079G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1037C>T	X.37:g.135314079G>A	ENSP00000318086:p.Ser346Leu					MAP7D3_ENST00000370661.1_Missense_Mutation_p.S311L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.S328L	p.S346L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1257	-	Acute lymphoblastic leukemia(192;0.000127)		346					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1037C>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341803	0.24339	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.0	-2.91	0.05631	.	.	.	.	.	T	0.04452	0.0122	L	0.28192	0.835	0.09310	N	1	B;B;B;B	0.30033	0.266;0.02;0.069;0.208	B;B;B;B	0.17979	0.011;0.011;0.004;0.02	T	0.32981	-0.9886	9	0.42905	T	0.14	2.4003	4.2005	0.10464	0.4556:0.0:0.2903:0.254	.	328;305;346;311	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	311;346;328;305	ENSP00000359695:S311L;ENSP00000318086:S346L;ENSP00000359697:S328L;ENSP00000359694:S305L	ENSP00000318086:S346L	S	-	2	0	MAP7D3	135141745	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.456000	0.21859	-1.115000	0.02973	-0.268000	0.10319	TCG		0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			134	146	0	0	0	1	0	134	146				
ZNF646	9726	broad.mit.edu	37	16	31091179	31091179	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:31091179G>A	ENST00000394979.2	+	1	3957	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K	ZNF646_ENST00000300850.5_Silent_p.K1178K			O15015	ZN646_HUMAN	zinc finger protein 646	1178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCACTGTGAAGGGGGAGGAGA	0.602																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3532-3534)aaG>aaA		zinc finger protein 646							34.0	42.0	40.0					16																	31091179		2195	4299	6494	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091179G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3534G>A	16.37:g.31091179G>A						ZNF646_ENST00000300850.5_Silent_p.K1178K	p.K1178K			O15015	ZN646_HUMAN			1	3957	+			1178					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3534G>A																																																																																					0.602	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		11	87	0	0	0	1	0	11	87				
ZNF835	90485	broad.mit.edu	37	19	57175926	57175926	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:57175926C>T	ENST00000537055.2	-	2	872	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCACGCGCCGGTGCTG	0.721																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(640-642)cGc>cAc		zinc finger protein 835							17.0	17.0	17.0					19																	57175926		2195	4262	6457	SO:0001583	missense	90485							g.chr19:57175926C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.641G>A	19.37:g.57175926C>T	ENSP00000444747:p.Arg214His						p.R214H	NM_001005850.2	NP_001005850.2					2	872	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.641G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763428	0.69763	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.25749	1.78	2.12	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49253	0.1546	M	0.76838	2.35	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.21314	-1.0249	9	0.87932	D	0	.	10.2869	0.43573	0.0:1.0:0.0:0.0	.	236	Q9Y2P0	ZN835_HUMAN	H	236;214	ENSP00000444747:R214H	ENSP00000341756:R236H	R	-	2	0	ZNF835	61867738	0.000000	0.05858	0.049000	0.19019	0.502000	0.33828	-0.055000	0.11807	1.506000	0.48736	0.561000	0.74099	CGC		0.721	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	70	0	0	0	1	0	5	70				
RPL36AL	6166	broad.mit.edu	37	14	50085724	50085724	+	Missense_Mutation	SNP	C	C	G	rs1804401		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085724C>G	ENST00000298289.6	-	2	258	c.99G>C	c.(97-99)ttG>ttC	p.L33F	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTGGGCATACAAAGAATCCT	0.478																																						ENST00000298289.6																			0											c.(97-99)ttG>ttC		ribosomal protein L36a-like							113.0	105.0	108.0					14																	50085724		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085724C>G	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.99G>C	14.37:g.50085724C>G	ENSP00000346012:p.Leu33Phe						p.L33F	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	258	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		33					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.99G>C	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312351	0.60414	.	.	ENSG00000165502	ENST00000298289	T	0.48836	0.8	4.16	-0.0314	0.13910	Ribosomal protein, zinc-binding domain (1);	0.000000	0.56097	U	0.000024	T	0.47710	0.1460	.	.	.	0.25104	N	0.990768	P	0.40332	0.713	P	0.48454	0.578	T	0.44421	-0.9329	9	0.66056	D	0.02	-33.4981	8.2914	0.31960	0.2835:0.4406:0.2758:0.0	.	33	Q969Q0	RL36L_HUMAN	F	33	ENSP00000346012:L33F	ENSP00000346012:L33F	L	-	3	2	RPL36AL	49155474	0.919000	0.31177	0.986000	0.45419	0.881000	0.50899	0.007000	0.13174	0.011000	0.14865	0.579000	0.79373	TTG		0.478	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			7	588	0	0	0	1	0	7	588				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	365	0	0	0	1	0	5	365				
RPL36AL	6166	broad.mit.edu	37	14	50085742	50085742	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085742C>T	ENST00000298289.6	-	2	240	c.81G>A	c.(79-81)aaG>aaA	p.K27K	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	27					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTTGCCCTTCTTATACTGTG	0.488																																						ENST00000298289.6																			0											c.(79-81)aaG>aaA		ribosomal protein L36a-like							107.0	101.0	103.0					14																	50085742		2203	4300	6503	SO:0001819	synonymous_variant	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085742C>T	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.81G>A	14.37:g.50085742C>T							p.K27K	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	240	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		27					Q3B7A5	Silent	SNP	ENST00000298289.6	37	c.81G>A	CCDS9689.1																																																																																				0.488	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			6	556	0	0	0	1	0	6	556				
MCTP1	79772	broad.mit.edu	37	5	94114845	94114845	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:94114845G>A	ENST00000515393.1	-	19	2579	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	MCTP1_ENST00000312216.8_Silent_p.D639D|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Silent_p.D376D|MCTP1_ENST00000429576.2_Silent_p.D553D	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	860					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTCTTCCTCGTCCTCTAGCA	0.423																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2578-2580)gaC>gaT		multiple C2 domains, transmembrane 1							178.0	143.0	155.0					5																	94114845		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94114845G>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2580C>T	5.37:g.94114845G>A						MCTP1_ENST00000505078.1_Silent_p.D376D|MCTP1_ENST00000429576.2_Silent_p.D553D|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000312216.8_Silent_p.D639D	p.D860D	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	19	2579	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	860					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.2580C>T	CCDS34203.1																																																																																				0.423	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		75	274	0	0	0	1	0	75	274				
U2SURP	23350	broad.mit.edu	37	3	142741876	142741876	+	Silent	SNP	G	G	A	rs368643846		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:142741876G>A	ENST00000473835.2	+	12	1290	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	U2SURP_ENST00000493598.2_Silent_p.P399P|U2SURP_ENST00000397933.2_Missense_Mutation_p.R6H	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	400	Pro-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CTATGTTACCGCCACCTAAAA	0.408																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(16-18)cGc>cAc		U2 snRNP-associated SURP domain containing		G		0,3688		0,0,1844	33.0	30.0	31.0		1200	-10.9	0.3	3		31	1,8183		0,1,4091	no	coding-synonymous	U2SURP	NM_001080415.1		0,1,5935	AA,AG,GG		0.0122,0.0,0.0084		400/1030	142741876	1,11871	1844	4092	5936	SO:0001819	synonymous_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741876G>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1200G>A	3.37:g.142741876G>A						U2SURP_ENST00000473835.2_Silent_p.P400P|U2SURP_ENST00000493598.2_Silent_p.P399P	p.R6H			O15042	SR140_HUMAN			12	1299	+			0					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.17G>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	5.256	0.232748	0.09969	0.0	1.22E-4	ENSG00000163714	ENST00000397933	.	.	.	5.93	-10.9	0.00192	.	.	.	.	.	T	0.32912	0.0845	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	7	0.87932	D	0	-7.9104	13.2401	0.59992	0.7637:0.0704:0.0906:0.0754	.	6	O15042-3	.	H	6	.	ENSP00000381027:R6H	R	+	2	0	U2SURP	144224566	0.746000	0.28272	0.337000	0.25536	0.988000	0.76386	-0.025000	0.12413	-1.938000	0.01046	-0.812000	0.03155	CGC		0.408	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		4	94	0	0	0	1	0	4	94				
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		ctgctgctgctgcAGCCCCAG	0.552																																						ENST00000496593.1																			0																																																			0							g.chr11:61405030T>A	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405030T>A								NR_002775.2						0	1634	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		6	188	0	0	0	1	0	6	188				
MOS	4342	broad.mit.edu	37	8	57026538	57026538	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:57026538G>A	ENST00000311923.1	-	1	3	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	2					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGGGCGAGGGCATCGCACTT	0.632																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(4-6)Ccc>Tcc		v-mos Moloney murine sarcoma viral oncogene homolog							12.0	15.0	14.0					8																	57026538		2171	4250	6421	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026538G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.4C>T	8.37:g.57026538G>A	ENSP00000310722:p.Pro2Ser						p.P2S	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	3	-			2					Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.4C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845672	0.71603	.	.	ENSG00000172680	ENST00000311923	D	0.82081	-1.57	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000001	D	0.90940	0.7152	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.92023	0.5627	10	0.87932	D	0	.	18.222	0.89904	0.0:0.0:1.0:0.0	.	2	P00540	MOS_HUMAN	S	2	ENSP00000310722:P2S	ENSP00000310722:P2S	P	-	1	0	MOS	57189092	1.000000	0.71417	0.998000	0.56505	0.094000	0.18550	9.169000	0.94788	2.387000	0.81309	0.557000	0.71058	CCC		0.632	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		6	97	0	0	0	1	0	6	97				
EGF	1950	broad.mit.edu	37	4	110880564	110880564	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:110880564C>G	ENST00000265171.5	+	6	1482	c.1037C>G	c.(1036-1038)gCc>gGc	p.A346G	EGF_ENST00000503392.1_Missense_Mutation_p.A346G|EGF_ENST00000509793.1_Intron	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	346	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GAGGGATACGCCCTAAGTCGA	0.498																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1036-1038)gCc>gGc		epidermal growth factor	Sulindac(DB00605)						146.0	115.0	125.0					4																	110880564		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110880564C>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1037C>G	4.37:g.110880564C>G	ENSP00000265171:p.Ala346Gly					EGF_ENST00000503392.1_Missense_Mutation_p.A346G|EGF_ENST00000509793.1_Intron	p.A346G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	6	1482	+		Hepatocellular(203;0.0893)	346			EGF-like 1.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1037C>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853597	0.32791	.	.	ENSG00000138798	ENST00000265171;ENST00000503392	D;D	0.87491	-2.26;-2.26	5.18	4.33	0.51752	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.628717	0.18234	N	0.147478	T	0.69797	0.3151	N	0.14661	0.345	0.09310	N	1	P;P	0.41041	0.554;0.736	B;B	0.33196	0.159;0.159	T	0.60347	-0.7281	10	0.15952	T	0.53	.	7.5645	0.27870	0.0:0.7657:0.0:0.2343	.	346;346	E7EVD2;P01133	.;EGF_HUMAN	G	346	ENSP00000265171:A346G;ENSP00000421384:A346G	ENSP00000265171:A346G	A	+	2	0	EGF	111100013	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.849000	0.27723	2.426000	0.82243	0.655000	0.94253	GCC		0.498	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			67	271	0	0	0	1	0	67	271				
APBA2	321	broad.mit.edu	37	15	29346967	29346967	+	Missense_Mutation	SNP	G	G	A	rs375700005		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:29346967G>A	ENST00000558402.1	+	5	1479	c.880G>A	c.(880-882)Gga>Aga	p.G294R	APBA2_ENST00000561069.1_Missense_Mutation_p.G294R|APBA2_ENST00000558330.1_Missense_Mutation_p.G294R|APBA2_ENST00000411764.1_Missense_Mutation_p.G294R|APBA2_ENST00000558259.1_Missense_Mutation_p.G294R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	294					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAAGCACCCCGGAGACCCCCA	0.662																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(880-882)Gga>Aga		amyloid beta (A4) precursor protein-binding, family A, member 2		G	ARG/GLY,ARG/GLY	0,4400		0,0,2200	18.0	22.0	20.0		880,880	3.1	0.2	15		20	1,8571		0,1,4285	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	125,125	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	294/738,294/750	29346967	1,12971	2200	4286	6486	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346967G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.880G>A	15.37:g.29346967G>A	ENSP00000453293:p.Gly294Arg					APBA2_ENST00000558259.1_Missense_Mutation_p.G294R|APBA2_ENST00000411764.1_Missense_Mutation_p.G294R|APBA2_ENST00000561069.1_Missense_Mutation_p.G294R|APBA2_ENST00000558330.1_Missense_Mutation_p.G294R	p.G294R			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1479	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	294					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.880G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	3.639	-0.073870	0.07184	0.0	1.17E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.29655	1.56	4.96	3.08	0.35506	.	0.685293	0.14091	N	0.342030	T	0.24122	0.0584	L	0.50333	1.59	0.09310	N	0.999998	P;P;P	0.49447	0.924;0.848;0.924	B;B;B	0.40940	0.344;0.271;0.344	T	0.07328	-1.0778	10	0.17369	T	0.5	.	7.6919	0.28573	0.2545:0.0:0.7455:0.0	.	294;294;294	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	R	294	ENSP00000409312:G294R	ENSP00000219865:G294R	G	+	1	0	APBA2	27134259	0.997000	0.39634	0.217000	0.23759	0.186000	0.23388	3.084000	0.50143	1.075000	0.40932	-0.143000	0.13931	GGA		0.662	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		9	154	0	0	0	1	0	9	154				
POLR2B	5431	broad.mit.edu	37	4	57871882	57871882	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:57871882G>A	ENST00000381227.1	+	10	1627	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	POLR2B_ENST00000441246.2_Missense_Mutation_p.R398K|POLR2B_ENST00000431623.2_Missense_Mutation_p.R330K|RNU6-998P_ENST00000515894.1_RNA|POLR2B_ENST00000314595.5_Missense_Mutation_p.R405K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	405					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTCTTATTTAGAGGGTAAGGA	0.413																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1213-1215)aGa>aAa		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							88.0	88.0	88.0					4																	57871882		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57871882G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1214G>A	4.37:g.57871882G>A	ENSP00000370625:p.Arg405Lys					POLR2B_ENST00000441246.2_Missense_Mutation_p.R398K|POLR2B_ENST00000431623.2_Missense_Mutation_p.R330K|POLR2B_ENST00000314595.5_Missense_Mutation_p.R405K	p.R405K			P30876	RPB2_HUMAN			10	1627	+	Glioma(25;0.08)|all_neural(26;0.181)		405					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.1214G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444758	0.96187	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.46	5.46	0.80206	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.89062	0.3463	10	0.54805	T	0.06	.	19.6697	0.95907	0.0:0.0:1.0:0.0	.	330;405	C9J4M6;P30876	.;RPB2_HUMAN	K	405;330;398;405	ENSP00000370625:R405K;ENSP00000391096:R330K;ENSP00000391452:R398K;ENSP00000312735:R405K	ENSP00000312735:R405K	R	+	2	0	POLR2B	57566639	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.779000	0.85648	2.724000	0.93272	0.650000	0.86243	AGA		0.413	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		42	276	0	0	0	1	0	42	276				
GPR113	165082	broad.mit.edu	37	2	26534165	26534165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:26534165C>T	ENST00000311519.1	-	11	2430	c.2431G>A	c.(2431-2433)Gcc>Acc	p.A811T	GPR113_ENST00000421160.2_Missense_Mutation_p.A742T|GPR113_ENST00000541401.1_Missense_Mutation_p.A414T|GPR113_ENST00000333478.6_Missense_Mutation_p.A612T|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	811					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGCAGGGCGGCGTGGCGG	0.622																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1834-1836)Gcc>Acc		G protein-coupled receptor 113							64.0	50.0	55.0					2																	26534165		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534165C>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2431G>A	2.37:g.26534165C>T	ENSP00000307831:p.Ala811Thr					GPR113_ENST00000421160.2_Missense_Mutation_p.A742T|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.A414T|GPR113_ENST00000311519.1_Missense_Mutation_p.A811T	p.A612T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2416	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		811					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.1834G>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	6.411	0.443938	0.12164	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	6.0	1.07	0.20283	GPCR, family 2-like (1);	.	.	.	.	T	0.31389	0.0795	L	0.47016	1.485	0.45515	D	0.998478	P;P;B;P	0.42409	0.779;0.72;0.378;0.497	B;B;B;B	0.43680	0.427;0.209;0.427;0.169	T	0.12142	-1.0559	9	0.22109	T	0.4	-11.1476	2.2265	0.03985	0.1221:0.4838:0.1187:0.2754	.	742;612;811;414	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	T	414;612;742;811	ENSP00000445729:A414T;ENSP00000327396:A612T;ENSP00000388537:A742T;ENSP00000307831:A811T	ENSP00000307831:A811T	A	-	1	0	GPR113	26387669	0.001000	0.12720	0.052000	0.19188	0.087000	0.18053	-0.211000	0.09332	-0.077000	0.12752	-0.703000	0.03666	GCC		0.622	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		13	115	0	0	0	1	0	13	115				
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.T164T(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(490-492)acG>acT		POTE ankyrin domain family, member C							260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542654C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A						POTEC_ENST00000389891.4_5'UTR	p.T164T	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	491	-			164						Silent	SNP	ENST00000358970.5	37	c.492G>T	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	641	1	0	0.014758	1	0.01482	5	641				
TEKT4P2	100132288	broad.mit.edu	37	21	9907198	9907198	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:9907198C>T	ENST00000416067.1	-	0	1594					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		GTGCAGAAAGCTAACGCACTG	0.592																																						ENST00000416067.1																			0																																																			0							g.chr21:9907198C>T			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907198C>T								NR_037872.1|NR_038327.1						0	1594	-									RNA	SNP	ENST00000416067.1	37																																																																																						0.592	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		5	36	0	0	0	1	0	5	36				
MAL	4118	broad.mit.edu	37	2	95715409	95715409	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:95715409C>T	ENST00000309988.4	+	3	454	c.345C>T	c.(343-345)gaC>gaT	p.D115D	MAL_ENST00000354078.3_Silent_p.D59D|MAL_ENST00000353004.3_Intron|MAL_ENST00000349807.3_Intron|AC103563.9_ENST00000442200.1_RNA	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	115	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CGATGCAAGACGGCTTCACCT	0.647																																						ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(343-345)gaC>gaT		mal, T-cell differentiation protein							144.0	127.0	133.0					2																	95715409		2203	4300	6503	SO:0001819	synonymous_variant	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95715409C>T		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.345C>T	2.37:g.95715409C>T						MAL_ENST00000354078.3_Silent_p.D59D|MAL_ENST00000353004.3_Intron|MAL_ENST00000349807.3_Intron	p.D115D	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	3	454	+			115			MARVEL.		Q6FH77	Silent	SNP	ENST00000309988.4	37	c.345C>T	CCDS2006.1																																																																																				0.647	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		96	406	0	0	0	1	0	96	406				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			0							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	80	0	0	0	1	0	4	80				
ABCC2	1244	broad.mit.edu	37	10	101594176	101594176	+	Missense_Mutation	SNP	C	C	T	rs142715085	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:101594176C>T	ENST00000370449.4	+	24	3411	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1100	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R1100C(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCAGTCCTTGCGCAGCTGGAT	0.468																																						ENST00000370449.4																			1	Substitution - Missense(1)	p.R1100C(1)	large_intestine(1)	NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3298-3300)Cgc>Tgc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)		CYS/ARG	0,4406		0,0,2203	274.0	206.0	229.0		3298	4.4	0.9	10	dbSNP_134	229	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ABCC2	NM_000392.3	180	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	1100/1546	101594176	7,12999	2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101594176C>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3298C>T	10.37:g.101594176C>T	ENSP00000359478:p.Arg1100Cys						p.R1100C	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	24	3411	+		Colorectal(252;0.234)	1100			ABC transmembrane type-1 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3298C>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058211	0.55325	0.0	8.14E-4	ENSG00000023839	ENST00000370449	D	0.89681	-2.55	5.28	4.38	0.52667	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96170	0.9122	10	0.87932	D	0	-10.2227	13.8333	0.63393	0.0:0.9261:0.0:0.0739	.	1100	Q92887	MRP2_HUMAN	C	1100	ENSP00000359478:R1100C	ENSP00000359478:R1100C	R	+	1	0	ABCC2	101584166	1.000000	0.71417	0.852000	0.33557	0.053000	0.15095	4.409000	0.59768	1.228000	0.43614	0.511000	0.50034	CGC		0.468	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		41	332	0	0	0	1	0	41	332				
UNC13D	201294	broad.mit.edu	37	17	73836181	73836181	+	Missense_Mutation	SNP	G	G	A	rs202020396		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:73836181G>A	ENST00000207549.4	-	11	1248	c.869C>T	c.(868-870)tCg>tTg	p.S290L	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.S290L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	290	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGCTGGCCGAAGTGGCTCT	0.667									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		13692	0.0		0.0	False		,,,				2504	0.001					ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	GRCh37	CM060506	UNC13D	M		c.(868-870)tCg>tTg		unc-13 homolog D (C. elegans)							25.0	29.0	28.0					17																	73836181		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73836181G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.869C>T	17.37:g.73836181G>A	ENSP00000207549:p.Ser290Leu					UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.S290L	p.S290L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1248	-			290			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.869C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	5.902	0.350463	0.11182	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71341	-0.54;-0.56	4.35	-8.7	0.00851	.	2.024690	0.02792	N	0.122211	T	0.38878	0.1057	N	0.04203	-0.255	0.09310	N	1	B;B	0.25486	0.001;0.127	B;B	0.14023	0.001;0.01	T	0.39981	-0.9587	10	0.33940	T	0.23	0.942	1.8052	0.03079	0.4553:0.1975:0.1707:0.1765	.	290;290	B4DTQ6;Q70J99	.;UN13D_HUMAN	L	290	ENSP00000207549:S290L;ENSP00000388093:S290L	ENSP00000207549:S290L	S	-	2	0	UNC13D	71347776	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-1.869000	0.01643	-3.304000	0.00192	-1.008000	0.02478	TCG		0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		8	79	0	0	0	1	0	8	79				
NLRP14	338323	broad.mit.edu	37	11	7081264	7081264	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:7081264C>T	ENST00000299481.4	+	9	3119	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	925					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGATGTCTTTCGGCATCCAAG	0.428																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2773-2775)Cgg>Tgg		NLR family, pyrin domain containing 14							220.0	208.0	212.0					11																	7081264		2201	4295	6496	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7081264C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2773C>T	11.37:g.7081264C>T	ENSP00000299481:p.Arg925Trp						p.R925W	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3119	+			925					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2773C>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764218	0.31228	.	.	ENSG00000158077	ENST00000299481	T	0.48522	0.81	4.5	0.00652	0.14067	.	0.764957	0.10829	N	0.629577	T	0.40979	0.1139	M	0.74546	2.27	0.09310	N	1	B	0.24721	0.11	B	0.12837	0.008	T	0.46317	-0.9200	10	0.72032	D	0.01	.	2.1725	0.03853	0.3529:0.3743:0.1721:0.1007	.	925	Q86W24	NAL14_HUMAN	W	925	ENSP00000299481:R925W	ENSP00000299481:R925W	R	+	1	2	NLRP14	7037840	0.000000	0.05858	0.002000	0.10522	0.987000	0.75469	-0.266000	0.08631	0.204000	0.20548	0.655000	0.94253	CGG		0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		6	829	0	0	0	1	0	6	829				
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						ENST00000358970.5																			2	Substitution - Missense(2)	p.G487E(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member C							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu						p.G487E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1459	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		8	454	0	0	0	1	0	8	454				
HRASLS5	117245	broad.mit.edu	37	11	63233706	63233706	+	Missense_Mutation	SNP	G	G	A	rs80217781		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:63233706G>A	ENST00000301790.4	-	5	782	c.623C>T	c.(622-624)cCg>cTg	p.P208L	HRASLS5_ENST00000540857.1_Missense_Mutation_p.P198L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P208L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	208							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTTGTCCACCGGCAAGGGCAG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20216	0.001		0.0	False		,,,				2504	0.0					ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(592-594)cCg>cTg		HRAS-like suppressor family, member 5							222.0	168.0	186.0					11																	63233706		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63233706G>A	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.623C>T	11.37:g.63233706G>A	ENSP00000301790:p.Pro208Leu					HRASLS5_ENST00000539221.1_Missense_Mutation_p.P208L|HRASLS5_ENST00000301790.4_Missense_Mutation_p.P208L	p.P198L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			5	725	-			208					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.593C>T	CCDS8044.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.40	3.113436	0.56398	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.23552	1.9;1.9;1.9	4.16	4.16	0.48862	NC (1);	0.211175	0.39083	N	0.001474	T	0.51787	0.1695	M	0.82433	2.59	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.997	T	0.55405	-0.8146	10	0.59425	D	0.04	-17.8362	12.2645	0.54670	0.0:0.0:1.0:0.0	.	208;198;208	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	198;208;208	ENSP00000444809:P198L;ENSP00000443873:P208L;ENSP00000301790:P208L	ENSP00000301790:P208L	P	-	2	0	HRASLS5	62990282	1.000000	0.71417	0.966000	0.40874	0.106000	0.19336	4.885000	0.63142	2.618000	0.88619	0.650000	0.86243	CCG		0.512	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		22	332	0	0	0	1	0	22	332				
ZNRF2P2	100271874	broad.mit.edu	37	7	29727117	29727117	+	RNA	SNP	T	T	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:29727117T>A	ENST00000426767.1	-	0	0				AC007276.5_ENST00000602980.1_RNA	NR_024278.1				zinc and ring finger 2 pseudogene 2																		GTTGTTGATTTAAAAAAAAAT	0.249																																						ENST00000602980.1																			0																																																			0							g.chr7:29727117T>A			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29727117T>A								NR_036482.1						0	935	+									RNA	SNP	ENST00000426767.1	37																																																																																						0.249	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		4	126	0	0	0	1	0	4	126				
KCNT1	57582	broad.mit.edu	37	9	138670646	138670646	+	Missense_Mutation	SNP	G	G	A	rs372824034		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138670646G>A	ENST00000263604.3	+	23	2650	c.2650G>A	c.(2650-2652)Gtc>Atc	p.V884I	KCNT1_ENST00000491806.2_Missense_Mutation_p.V870I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V858I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V882I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V862I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V884I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V903I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V903I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	884					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGACCATCGTCAACGTGCA	0.637																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2707-2709)Gtc>Atc		potassium channel, subfamily T, member 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	165.0	121.0	136.0		2707	4.5	1.0	9		136	0,8600		0,0,4300	no	missense	KCNT1	NM_020822.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	903/1236	138670646	1,13005	2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138670646G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2650G>A	9.37:g.138670646G>A	ENSP00000263604:p.Val884Ile					KCNT1_ENST00000371757.2_Missense_Mutation_p.V903I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V870I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V882I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V884I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V884I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V858I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V862I	p.V903I			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	23	2781	+		Myeloproliferative disorder(178;0.0821)	903					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471882	0.84533	2.27E-4	0.0	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.5	4.5	0.54988	.	0.000000	0.64402	U	0.000001	D	0.84243	0.5429	L	0.45581	1.43	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.989;0.994;0.989	D;P;P;P	0.85130	0.997;0.652;0.677;0.578	D	0.83797	0.0234	10	0.37606	T	0.19	-40.5009	17.1945	0.86888	0.0:0.0:1.0:0.0	.	870;903;858;884	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	I	858;903;903;862;870;884;882;884	ENSP00000417851:V858I;ENSP00000298480:V903I;ENSP00000360822:V903I;ENSP00000263604:V884I	ENSP00000263604:V884I	V	+	1	0	KCNT1	137810467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.563000	0.98148	2.024000	0.59613	0.557000	0.71058	GTC		0.637	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		20	171	0	0	0	1	0	20	171				
KRT83	3889	broad.mit.edu	37	12	52715017	52715017	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:52715017C>T	ENST00000293670.3	-	1	165	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	35	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGTAGGGGGCGGCGGTGATG	0.697																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(103-105)Gcc>Acc		keratin 83							25.0	33.0	30.0					12																	52715017		2183	4272	6455	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52715017C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.103G>A	12.37:g.52715017C>T	ENSP00000293670:p.Ala35Thr						p.A35T	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	165	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		35			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.103G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379703	0.42207	.	.	ENSG00000170523	ENST00000293670	D	0.87412	-2.25	4.55	3.66	0.41972	.	0.000000	0.34580	U	0.003842	T	0.82181	0.4981	M	0.69358	2.11	0.29299	N	0.868803	B	0.15719	0.014	B	0.12837	0.008	T	0.74051	-0.3789	10	0.44086	T	0.13	.	3.659	0.08232	0.1679:0.577:0.163:0.0922	.	35	P78385	KRT83_HUMAN	T	35	ENSP00000293670:A35T	ENSP00000293670:A35T	A	-	1	0	KRT83	51001284	0.004000	0.15560	1.000000	0.80357	0.942000	0.58702	0.668000	0.25127	1.270000	0.44297	-0.140000	0.14226	GCC		0.697	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		27	244	0	0	0	1	0	27	244				
PCDH11X	27328	broad.mit.edu	37	X	91090535	91090535	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(31-33)gCg>gTg		protocadherin 11 X-linked							132.0	105.0	114.0					X																	91090535		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090535C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.32C>T	X.37:g.91090535C>T	ENSP00000362186:p.Ala11Val					PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A11V	p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	877	+			11					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.32C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387562	0.25031	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.73;0.76;0.77;0.72;0.78;0.77;0.75;0.78;0.78	3.93	3.93	0.45458	.	0.251193	0.32769	N	0.005671	T	0.38134	0.1029	L	0.29908	0.895	0.30046	N	0.812228	P;B;P;P;P;P;B;P	0.44139	0.703;0.296;0.827;0.827;0.827;0.735;0.28;0.526	B;B;B;B;B;B;B;B	0.43155	0.168;0.055;0.41;0.41;0.41;0.233;0.047;0.047	T	0.30621	-0.9972	10	0.23891	T	0.37	.	14.4725	0.67526	0.0:1.0:0.0:0.0	.	11;11;11;11;11;11;11;11	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	11	ENSP00000378746:A11V;ENSP00000362186:A11V;ENSP00000362189:A11V;ENSP00000355040:A11V;ENSP00000362180:A11V;ENSP00000423762:A11V;ENSP00000355105:A11V;ENSP00000384758:A11V;ENSP00000298274:A11V	ENSP00000298274:A11V	A	+	2	0	PCDH11X	90977191	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.861000	0.56002	1.935000	0.56089	0.415000	0.27848	GCG		0.493	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		25	179	0	0	0	1	0	25	179				
GAS2L3	283431	broad.mit.edu	37	12	101005850	101005850	+	Missense_Mutation	SNP	G	G	A	rs143611209	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:101005850G>A	ENST00000539410.1	+	5	762	c.376G>A	c.(376-378)Gca>Aca	p.A126T	GAS2L3_ENST00000537247.1_Missense_Mutation_p.A22T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000266754.5_Missense_Mutation_p.A126T			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	126	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGACAATACCGCAAACTTCCT	0.378																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(64-66)Gca>Aca		growth arrest-specific 2 like 3							204.0	193.0	197.0					12																	101005850		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101005850G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.376G>A	12.37:g.101005850G>A	ENSP00000439672:p.Ala126Thr					GAS2L3_ENST00000266754.5_Missense_Mutation_p.A126T|GAS2L3_ENST00000539410.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.A126T	p.A22T			Q86XJ1	GA2L3_HUMAN			6	1018	+			126					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.64G>A	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579672	0.96565	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.81	5.81	0.92471	Calponin homology domain (5);	0.054165	0.85682	D	0.000000	T	0.62036	0.2395	M	0.78916	2.43	0.53005	D	0.999965	D	0.55172	0.97	P	0.54590	0.756	T	0.62426	-0.6857	10	0.49607	T	0.09	-10.3724	20.1345	0.98019	0.0:0.0:1.0:0.0	.	126	Q86XJ1	GA2L3_HUMAN	T	126;126;22;126	ENSP00000266754:A126T;ENSP00000448955:A126T;ENSP00000442406:A22T;ENSP00000439672:A126T	ENSP00000266754:A126T	A	+	1	0	GAS2L3	99529981	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.437000	0.97535	2.763000	0.94921	0.558000	0.71614	GCA		0.378	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		5	647	0	0	0	1	0	5	647				
FCGR2B	2213	broad.mit.edu	37	1	161643018	161643018	+	Splice_Site	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:161643018A>G	ENST00000358671.5	+	4	726	c.645A>G	c.(643-645)caA>caG	p.Q215Q	FCGR2B_ENST00000236937.9_Splice_Site_p.Q215Q|FCGR2B_ENST00000367961.4_Splice_Site_p.Q208Q|FCGR2B_ENST00000367962.4_Splice_Site_p.Q215Q|FCGR2B_ENST00000428605.2_Splice_Site_p.Q215Q|FCGR2B_ENST00000367960.5_Splice_Site_p.Q208Q|FCGR2B_ENST00000403078.3_Splice_Site_p.Q215Q|RP11-25K21.1_ENST00000453111.1_RNA	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	215					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACTGTCCAAGGTATGCGGA	0.542			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0											c.e4+1		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						62.0	62.0	62.0					1																	161643018		2170	4292	6462	SO:0001630	splice_region_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161643018A>G	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.646+1A>G	1.37:g.161643018A>G						RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000236937.9_Splice_Site_p.Q215_splice|FCGR2B_ENST00000403078.3_Splice_Site_p.Q215_splice|FCGR2B_ENST00000428605.2_Splice_Site_p.Q215_splice|FCGR2B_ENST00000358671.5_Splice_Site_p.Q215_splice|FCGR2B_ENST00000367961.4_Splice_Site_p.Q208_splice|FCGR2B_ENST00000367960.5_Splice_Site_p.Q208_splice	p.Q215_splice			P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	772	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		215					A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Splice_Site	SNP	ENST00000358671.5	37	c.646_splice	CCDS30924.1																																																																																				0.542	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001	Silent	22	144	0	0	0	1	0	22	144				
GABBR2	9568	broad.mit.edu	37	9	101216358	101216358	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:101216358G>A	ENST00000259455.2	-	7	1600	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	381					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.R381W(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGCTGGTGCCGGCTGCTGGCA	0.607																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	1	Substitution - Missense(1)	p.R381W(1)	breast(1)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(1141-1143)Cgg>Tgg		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						159.0	133.0	142.0					9																	101216358		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101216358G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1141C>T	9.37:g.101216358G>A	ENSP00000259455:p.Arg381Trp						p.R381W	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			7	1600	-		Acute lymphoblastic leukemia(62;0.0527)	381					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1141C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886305	0.72410	.	.	ENSG00000136928	ENST00000259455	D	0.83914	-1.78	5.79	3.75	0.43078	Extracellular ligand-binding receptor (1);	0.196584	0.45361	D	0.000367	D	0.84977	0.5592	L	0.46157	1.445	0.53005	D	0.99996	D	0.69078	0.997	P	0.58077	0.832	D	0.86335	0.1701	10	0.87932	D	0	.	12.3524	0.55155	0.0:0.0:0.6388:0.3612	.	381	O75899	GABR2_HUMAN	W	381	ENSP00000259455:R381W	ENSP00000259455:R381W	R	-	1	2	GABBR2	100256179	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.287000	0.33284	1.400000	0.46741	0.650000	0.86243	CGG		0.607	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			32	201	0	0	0	1	0	32	201				
NPIPA5	100288332	broad.mit.edu	37	16	15457676	15457676	+	Missense_Mutation	SNP	A	A	G	rs199607565		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:15457676A>G	ENST00000360151.4	-	8	892	c.893T>C	c.(892-894)cTa>cCa	p.L298P		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	298	Pro-rich.																CGCTGAGGGTAGAGCTGAGGG	0.562																																						ENST00000360151.4																			0											c.(892-894)cTa>cCa		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457676A>G		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.893T>C	16.37:g.15457676A>G	ENSP00000433597:p.Leu298Pro						p.L298P	NM_001277325.1	NP_001264254.1					8	892	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.893T>C	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.910512	0.00056	.	.	ENSG00000183793	ENST00000360151	T	0.44482	0.92	.	.	.	.	.	.	.	.	T	0.12603	0.0306	N	0.01576	-0.805	0.09310	N	1	.	.	.	.	.	.	T	0.32534	-0.9903	4	0.07482	T	0.82	.	.	.	.	.	.	.	.	P	298	ENSP00000433597:L298P	ENSP00000433597:L298P	L	-	2	0	RP11-82O18.1	15365177	0.002000	0.14202	.	.	.	.	0.072000	0.14617	.	.	.	.	CTA		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			11	815	0	0	0	1	0	11	815				
CDK12	51755	broad.mit.edu	37	17	37627224	37627224	+	Missense_Mutation	SNP	G	G	A	rs200075664		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:37627224G>A	ENST00000447079.4	+	2	1172	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	CDK12_ENST00000430627.2_Missense_Mutation_p.R380H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	380					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCACGCAGTCGTCATTCCAGT	0.443			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1138-1140)cGt>cAt		cyclin-dependent kinase 12							62.0	61.0	62.0					17																	37627224		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627224G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1139G>A	17.37:g.37627224G>A	ENSP00000398880:p.Arg380His	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.R380H	p.R380H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1172	+			380					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1139G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026744	0.75390	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.46819	0.9;0.86	6.16	6.16	0.99307	.	0.000000	0.44097	D	0.000499	T	0.61248	0.2332	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.58923	-0.7550	10	0.52906	T	0.07	-9.2319	20.8598	0.99761	0.0:0.0:1.0:0.0	.	379;380;380	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	380	ENSP00000407720:R380H;ENSP00000398880:R380H	ENSP00000407720:R380H	R	+	2	0	CDK12	34880750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.156000	0.77453	2.937000	0.99478	0.650000	0.86243	CGT		0.443	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		6	349	0	0	0	1	0	6	349				
DDX31	64794	broad.mit.edu	37	9	135523898	135523898	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:135523898G>A	ENST00000372159.3	-	10	1247	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	DDX31_ENST00000438527.3_Missense_Mutation_p.R237C|DDX31_ENST00000372153.1_Missense_Mutation_p.R366C|DDX31_ENST00000310532.2_Missense_Mutation_p.R366C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	366	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCCACCAGGCGTCCAGGAGTT	0.413																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1096-1098)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							109.0	115.0	113.0					9																	135523898		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135523898G>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1096C>T	9.37:g.135523898G>A	ENSP00000361232:p.Arg366Cys					DDX31_ENST00000310532.2_Missense_Mutation_p.R366C|DDX31_ENST00000438527.3_Missense_Mutation_p.R237C|DDX31_ENST00000372153.1_Missense_Mutation_p.R366C	p.R366C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	10	1247	-			366			Helicase ATP-binding.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1096C>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672307	0.88348	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.54479	2.09;0.57;2.09;0.57	6.17	6.17	0.99709	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87906	0.2694	10	0.87932	D	0	-15.9721	14.6754	0.68975	0.0:0.0:0.8551:0.1449	.	366;366	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	C	366;366;366;237;366	ENSP00000361232:R366C;ENSP00000361226:R366C;ENSP00000387730:R237C;ENSP00000310539:R366C	ENSP00000310539:R366C	R	-	1	0	DDX31	134513719	1.000000	0.71417	0.537000	0.28052	0.995000	0.86356	7.100000	0.76989	2.941000	0.99782	0.655000	0.94253	CGC		0.413	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		11	644	0	0	0	1	0	11	644				
FAT3	120114	broad.mit.edu	37	11	92600211	92600211	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:92600211C>T	ENST00000298047.6	+	21	11980	c.11963C>T	c.(11962-11964)tCg>tTg	p.S3988L	FAT3_ENST00000525166.1_Missense_Mutation_p.S3838L|FAT3_ENST00000409404.2_Missense_Mutation_p.S3988L|FAT3_ENST00000533797.1_Missense_Mutation_p.S323L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3988	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3988L(2)|p.S563L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCTGGACTCGGTGATACTG	0.617										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			3	Substitution - Missense(3)	p.S3988L(2)|p.S563L(1)	endometrium(3)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11962-11964)tCg>tTg		FAT atypical cadherin 3							10.0	13.0	12.0					11																	92600211		2016	4174	6190	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600211C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11963C>T	11.37:g.92600211C>T	ENSP00000298047:p.Ser3988Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Missense_Mutation_p.S323L|FAT3_ENST00000409404.2_Missense_Mutation_p.S3988L|FAT3_ENST00000525166.1_Missense_Mutation_p.S3838L	p.S3988L			Q8TDW7	FAT3_HUMAN			21	11980	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3988			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11963C>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.334571	0.81801	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82476	0.5045	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.957	D;P	0.87578	0.998;0.781	T	0.82220	-0.0565	9	0.62326	D	0.03	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	3988;3988	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	3988;3988;3838;323	ENSP00000298047:S3988L;ENSP00000387040:S3988L;ENSP00000432586:S3838L;ENSP00000436399:S323L	ENSP00000298047:S3988L	S	+	2	0	FAT3	92239859	1.000000	0.71417	0.980000	0.43619	0.553000	0.35397	5.694000	0.68272	2.826000	0.97356	0.561000	0.74099	TCG		0.617	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	39	0	0	0	1	0	7	39				
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(184-186)cGt>cAt		olfactory receptor, family 6, subfamily C, member 6							64.0	67.0	66.0					12																	55688832		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688832C>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.185G>A	12.37:g.55688832C>T	ENSP00000351211:p.Arg62His						p.R62H	NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN			1	184	-			62						Missense_Mutation	SNP	ENST00000358433.2	37	c.185G>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	3.881	-0.025966	0.07589	.	.	ENSG00000188324	ENST00000358433	T	0.01084	5.36	4.24	0.321	0.15883	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000517	T	0.01800	0.0057	M	0.84219	2.685	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.43065	-0.9414	10	0.66056	D	0.02	.	2.1956	0.03910	0.1224:0.4226:0.1199:0.335	.	62	A6NF89	OR6C6_HUMAN	H	62	ENSP00000351211:R62H	ENSP00000351211:R62H	R	-	2	0	OR6C6	53975099	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.335000	0.02662	-0.046000	0.13446	-1.274000	0.01402	CGT		0.388	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			24	259	0	0	0	1	0	24	259				
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:102292797C>G	ENST00000561463.1	+	0	843									DNM1 pseudogene 47									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597																																						ENST00000561463.1																			2	Substitution - Missense(2)	p.P129A(2)	urinary_tract(1)|lung(1)																																																0							g.chr15:102292797C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292797C>G														0	843	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	188	0	0	0	1	0	4	188				
DSEL	92126	broad.mit.edu	37	18	65178609	65178609	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:65178609G>A	ENST00000310045.7	-	2	4740	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1079					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTCATACTCGAAAGCATAAC	0.368																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3265-3267)ttC>ttT		dermatan sulfate epimerase-like							69.0	66.0	67.0					18																	65178609		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178609G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3267C>T	18.37:g.65178609G>A						CTD-2541J13.2_ENST00000583493.1_RNA	p.F1089F	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4740	-		Esophageal squamous(42;0.129)	1079					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.3267C>T	CCDS11995.1																																																																																				0.368	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		6	334	0	0	0	1	0	6	334				
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47.0	46.0	47.0					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	6	271	0	0	0	1	0	6	271				
GPATCH8	23131	broad.mit.edu	37	17	42476539	42476539	+	Missense_Mutation	SNP	C	C	T	rs199963233		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:42476539C>T	ENST00000591680.1	-	8	2936	c.2906G>A	c.(2905-2907)cGa>cAa	p.R969Q	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R891Q	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	969	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCGCTTGCTTCGACTACGACT	0.642																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2671-2673)cGa>cAa		G patch domain containing 8							39.0	39.0	39.0					17																	42476539		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476539C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2906G>A	17.37:g.42476539C>T	ENSP00000467556:p.Arg969Gln					GPATCH8_ENST00000591680.1_Missense_Mutation_p.R969Q	p.R891Q			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2954	-		Prostate(33;0.0181)	969			Ser-rich.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.2672G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020141	0.54576	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13538	2.58	5.2	5.2	0.72013	.	0.064020	0.64402	D	0.000003	T	0.26738	0.0654	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.01326	-1.1384	10	0.27785	T	0.31	-12.7963	18.9211	0.92525	0.0:1.0:0.0:0.0	.	969	Q9UKJ3	GPTC8_HUMAN	Q	969;891	ENSP00000395016:R891Q	ENSP00000335486:R969Q	R	-	2	0	GPATCH8	39832065	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	4.242000	0.58714	2.712000	0.92718	0.555000	0.69702	CGA		0.642	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		27	327	0	0	0	1	0	27	327				
NOS3	4846	broad.mit.edu	37	7	150698985	150698985	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:150698985G>A	ENST00000484524.1	+	12	1579	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NOS3_ENST00000297494.3_Missense_Mutation_p.E527K|NOS3_ENST00000461406.1_Missense_Mutation_p.E321K|NOS3_ENST00000467517.1_Missense_Mutation_p.E527K	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTATGGCTCCGAGACCGGCCG	0.652																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1579-1581)Gag>Aag		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						46.0	48.0	48.0					7																	150698985		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698985G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1579G>A	7.37:g.150698985G>A	ENSP00000420215:p.Glu527Lys					NOS3_ENST00000461406.1_Missense_Mutation_p.E321K|NOS3_ENST00000467517.1_Missense_Mutation_p.E527K|NOS3_ENST00000484524.1_Missense_Mutation_p.E527K	p.E527K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1936	+	all_neural(206;0.219)		527			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1579G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388389	0.82902	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.56097	D	0.000038	D	0.89434	0.6714	M	0.93898	3.47	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.987;0.987;0.994;1.0;0.998	D	0.92206	0.5772	10	0.87932	D	0	-6.0588	15.7394	0.77876	0.0:0.0:1.0:0.0	.	527;527;527;321;527	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	K	527;321;527;527	ENSP00000297494:E527K;ENSP00000417143:E321K;ENSP00000420215:E527K;ENSP00000420551:E527K	ENSP00000297494:E527K	E	+	1	0	NOS3	150329918	1.000000	0.71417	0.940000	0.37924	0.308000	0.27856	9.261000	0.95576	2.376000	0.81061	0.655000	0.94253	GAG		0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		68	241	0	0	0	1	0	68	241				
USP10	9100	broad.mit.edu	37	16	84779219	84779219	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:84779219G>A	ENST00000219473.7	+	4	1245	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	USP10_ENST00000570191.1_Missense_Mutation_p.V382I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	378					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TGAAAAGCAGGTTGAAGTCAA	0.468																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1132-1134)Gtt>Att		ubiquitin specific peptidase 10							17.0	17.0	17.0					16																	84779219		1844	4089	5933	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84779219G>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1132G>A	16.37:g.84779219G>A	ENSP00000219473:p.Val378Ile					USP10_ENST00000570191.1_Missense_Mutation_p.V382I	p.V378I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			4	1245	+			378					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1132G>A	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074841	0.36566	.	.	ENSG00000103194	ENST00000219473	T	0.08370	3.1	5.56	0.819	0.18785	.	1.566310	0.03694	N	0.247484	T	0.06280	0.0162	N	0.12182	0.205	0.32688	N	0.514625	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.33369	-0.9871	10	0.35671	T	0.21	-3.0685	8.9699	0.35899	0.3474:0.0:0.6526:0.0	.	382;378	Q14694-3;Q14694	.;UBP10_HUMAN	I	378	ENSP00000219473:V378I	ENSP00000219473:V378I	V	+	1	0	USP10	83336720	1.000000	0.71417	0.218000	0.23776	0.977000	0.68977	3.318000	0.51975	-0.067000	0.12976	-0.224000	0.12420	GTT		0.468	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			4	95	0	0	0	1	0	4	95				
DSCAM	1826	broad.mit.edu	37	21	41447025	41447025	+	Silent	SNP	C	C	A	rs371238790		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:41447025C>A	ENST00000400454.1	-	27	5304	c.4827G>T	c.(4825-4827)ctG>ctT	p.L1609L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1609					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGCACAAACAGCAGCAAGA	0.592																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4825-4827)ctG>ctT		Down syndrome cell adhesion molecule							94.0	110.0	105.0					21																	41447025		2120	4232	6352	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41447025C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4827G>T	21.37:g.41447025C>A							p.L1609L	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			27	5304	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1609					O60468	Silent	SNP	ENST00000400454.1	37	c.4827G>T	CCDS42929.1																																																																																				0.592	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		12	169	1	0	0.000978159	1	0.00099906	12	169				
KCNH5	27133	broad.mit.edu	37	14	63174356	63174356	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:63174356C>T	ENST00000322893.7	-	11	3105	c.2837G>A	c.(2836-2838)aGc>aAc	p.S946N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	946	CAD (involved in subunit assembly). {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGGGGTACGCTTTTTTCCGA	0.473																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2836-2838)aGc>aAc		potassium voltage-gated channel, subfamily H (eag-related), member 5							132.0	142.0	139.0					14																	63174356		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174356C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2837G>A	14.37:g.63174356C>T	ENSP00000321427:p.Ser946Asn					KCNH5_ENST00000420622.2_3'UTR	p.S946N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3105	-			946			CAD (involved in subunit assembly) (By similarity).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2837G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.657147	0.00108	.	.	ENSG00000140015	ENST00000322893	D	0.98889	-5.21	5.66	3.73	0.42828	.	0.225680	0.49916	D	0.000128	D	0.93354	0.7881	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.86737	0.1952	10	0.16896	T	0.51	.	3.934	0.09298	0.1606:0.5698:0.1557:0.1139	.	946	Q8NCM2	KCNH5_HUMAN	N	946	ENSP00000321427:S946N	ENSP00000321427:S946N	S	-	2	0	KCNH5	62244109	0.037000	0.19845	0.959000	0.39883	0.058000	0.15608	0.257000	0.18369	2.832000	0.97577	0.655000	0.94253	AGC		0.473	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		93	997	0	0	0	1	0	93	997				
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I|ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - Missense(2)	p.V205I(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(613-615)Gtc>Atc		ADAM metallopeptidase domain 29							86.0	87.0	87.0					4																	175897289		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897289G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.613G>A	4.37:g.175897289G>A	ENSP00000352177:p.Val205Ile					ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I	p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1283	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.613G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504909	0.44558	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.74	2.9	0.33743	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.330976	0.16461	N	0.213409	T	0.75627	0.3875	M	0.64080	1.96	0.09310	N	1	D	0.59357	0.985	P	0.58970	0.849	T	0.63435	-0.6638	9	.	.	.	.	7.3233	0.26540	0.1206:0.0:0.8794:0.0	.	205	Q9UKF5	ADA29_HUMAN	I	205	ENSP00000352177:V205I;ENSP00000414544:V205I;ENSP00000384229:V205I;ENSP00000423517:V205I	.	V	+	1	0	ADAM29	176133864	0.714000	0.27936	0.004000	0.12327	0.001000	0.01503	1.522000	0.35921	1.155000	0.42497	0.643000	0.83706	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				7	291	0	0	0	1	0	7	291				
TDGF1	6997	broad.mit.edu	37	3	46621337	46621337	+	Missense_Mutation	SNP	G	G	A	rs546750009		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:46621337G>A	ENST00000296145.5	+	4	1065	c.332G>A	c.(331-333)cGc>cAc	p.R111H	TDGF1_ENST00000542931.1_Missense_Mutation_p.R95H|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	111			R -> G (in dbSNP:rs34501971).		activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CACGATGTGCGCAAAGAGTAA	0.547																																						ENST00000296145.5																			0				cervix(2)|endometrium(1)|kidney(1)|lung(4)	8						c.(331-333)cGc>cAc		teratocarcinoma-derived growth factor 1							69.0	72.0	71.0					3																	46621337		2203	4300	6503	SO:0001583	missense	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46621337G>A	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.332G>A	3.37:g.46621337G>A	ENSP00000296145:p.Arg111His					LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.R95H	p.R111H	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	4	1065	+			111		R -> G (in dbSNP:rs34501971).			Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	c.332G>A	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084278	0.36758	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.66280	-0.19;-0.2	4.44	2.64	0.31445	.	0.126759	0.53938	N	0.000042	T	0.57344	0.2047	M	0.74881	2.28	0.30445	N	0.77578	B	0.11235	0.004	B	0.04013	0.001	T	0.57051	-0.7877	10	0.46703	T	0.11	.	7.3485	0.26676	0.1779:0.0:0.8221:0.0	.	111	P13385	TDGF1_HUMAN	H	95;111	ENSP00000446375:R95H;ENSP00000296145:R111H	ENSP00000296145:R111H	R	+	2	0	AC104304.1	46596341	0.891000	0.30450	0.005000	0.12908	0.061000	0.15899	2.995000	0.49441	0.625000	0.30304	0.655000	0.94253	CGC		0.547	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212		7	366	0	0	0	1	0	7	366				
PPCDC	60490	broad.mit.edu	37	15	75340906	75340906	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:75340906C>T	ENST00000342932.3	+	5	517	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	PPCDC_ENST00000564923.1_Missense_Mutation_p.R50W|PPCDC_ENST00000567336.1_Missense_Mutation_p.R93W|PPCDC_ENST00000563393.1_Missense_Mutation_p.R2W|PPCDC_ENST00000568649.1_Missense_Mutation_p.R82W	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	125					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)			breast(1)|cervix(1)	2						CTGCGTCATGCGGGCCTGGGA	0.662																																						ENST00000342932.3																			0				breast(1)|cervix(1)	2						c.(373-375)Cgg>Tgg		phosphopantothenoylcysteine decarboxylase							52.0	52.0	52.0					15																	75340906		2197	4295	6492	SO:0001583	missense	60490				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity	g.chr15:75340906C>T	AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.373C>T	15.37:g.75340906C>T	ENSP00000343190:p.Arg125Trp					PPCDC_ENST00000568649.1_Missense_Mutation_p.R82W|PPCDC_ENST00000567336.1_Missense_Mutation_p.R93W|PPCDC_ENST00000564923.1_Missense_Mutation_p.R50W|PPCDC_ENST00000563393.1_Missense_Mutation_p.R2W	p.R125W	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN			5	517	+			125					Q96SX0|Q9HC17	Missense_Mutation	SNP	ENST00000342932.3	37	c.373C>T	CCDS10275.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593241	0.86953	.	.	ENSG00000138621	ENST00000342932	T	0.49720	0.77	5.49	5.49	0.81192	Flavoprotein (3);	0.050133	0.85682	D	0.000000	T	0.80308	0.4599	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86798	0.1990	10	0.72032	D	0.01	-24.5121	18.3618	0.90377	0.0:1.0:0.0:0.0	.	125	Q96CD2	COAC_HUMAN	W	125	ENSP00000343190:R125W	ENSP00000343190:R125W	R	+	1	2	PPCDC	73127959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.512000	0.60469	2.592000	0.87571	0.655000	0.94253	CGG		0.662	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286416.1	NM_021823		5	420	0	0	0	1	0	5	420				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			13	85	1	0	4.16121e-05	1	4.28677e-05	13	85				
CCDC144CP	348254	broad.mit.edu	37	17	20239305	20239305	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:20239305G>A	ENST00000340196.4	+	0	729							Q8IYA2	C144C_HUMAN	coiled-coil domain containing 144C, pseudogene																		GAGAAAAGATGGACACTGGGG	0.418																																						ENST00000340196.4																			0																																																			0							g.chr17:20239305G>A			17p11.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000154898	ENSG00000154898			29073	pseudogene	pseudogene			"""coiled-coil domain containing 144C"""	CCDC144C		11997339	Standard	NR_023380		Approved		uc010cqy.1	Q8IYA2	OTTHUMG00000059513		17.37:g.20239305G>A														0	729	+								B7WNP5	RNA	SNP	ENST00000340196.4	37			.	.	.	.	.	.	.	.	.	.	.	2.219	-0.378822	0.05000	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	2.4	-4.8	0.03190	.	.	.	.	.	T	0.29423	0.0733	.	.	.	0.20975	N	0.999816	.	.	.	.	.	.	T	0.38394	-0.9663	4	0.42905	T	0.14	.	3.6693	0.08268	0.163:0.0:0.2534:0.5836	.	.	.	.	I	192	.	ENSP00000343605:M192I	M	+	3	0	CCDC144C	20179897	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.649000	0.05384	-0.777000	0.04572	0.197000	0.17608	ATG		0.418	CCDC144CP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132378.2	NR_023380		10	600	0	0	0	1	0	10	600				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116689	121116689	+	lincRNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:121116689C>T	ENST00000437515.1	-	0	329					NR_104189.1																						CTTTTCAGCACCAAGCCAAGT	0.403																																						ENST00000437515.1																			0																																																			0							g.chr1:121116689C>T																													1.37:g.121116689C>T														0	329	-									RNA	SNP	ENST00000437515.1	37																																																																																						0.403	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	289	0	0	0	1	0	7	289				
LIN54	132660	broad.mit.edu	37	4	83905426	83905426	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:83905426C>A	ENST00000340417.3	-	2	949	c.572G>T	c.(571-573)aGg>aTg	p.R191M	LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.R191M|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.R191M|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.R191M|LIN54_ENST00000506560.1_Missense_Mutation_p.R191M	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	191					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CACCTCTGGCCTCCCTCCAAT	0.478																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(571-573)aGg>aTg		lin-54 homolog (C. elegans)							121.0	117.0	119.0					4																	83905426		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905426C>A	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.572G>T	4.37:g.83905426C>A	ENSP00000341947:p.Arg191Met					LIN54_ENST00000505397.1_Missense_Mutation_p.R191M|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.R191M|LIN54_ENST00000395282.2_Missense_Mutation_p.R191M|LIN54_ENST00000506560.1_Missense_Mutation_p.R191M	p.R191M	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			2	949	-		Hepatocellular(203;0.114)	191					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.572G>T	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720858	0.68959	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.62	4.78	0.61160	.	0.149254	0.56097	D	0.000025	T	0.50034	0.1592	L	0.27053	0.805	0.58432	D	0.999993	D;P	0.54207	0.965;0.94	P;B	0.50192	0.634;0.431	T	0.55891	-0.8069	9	0.72032	D	0.01	-14.2655	14.7713	0.69681	0.0:0.9303:0.0:0.0697	.	191;191	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	M	191	.	ENSP00000341947:R191M	R	-	2	0	LIN54	84124450	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.707000	0.74654	1.507000	0.48752	0.655000	0.94253	AGG		0.478	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		54	393	1	0	4.88482e-21	1	5.2353e-21	54	393				
RBAK	57786	broad.mit.edu	37	7	5104238	5104238	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:5104238G>A	ENST00000353796.3	+	6	1475	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.R384H|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	384					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCCTTCTCCCGCAAGTCTGCT	0.463																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1150-1152)cGc>cAc		RB-associated KRAB zinc finger							114.0	114.0	114.0					7																	5104238		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104238G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1151G>A	7.37:g.5104238G>A	ENSP00000275423:p.Arg384His					RBAK_ENST00000353796.3_Missense_Mutation_p.R384H|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	p.R384H	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1670	+		Ovarian(82;0.0175)	384					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1151G>A	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115033	0.37339	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.07327	3.2;3.2	3.76	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144730	0.33753	N	0.004596	T	0.09774	0.0240	N	0.11673	0.155	0.29214	N	0.874362	D	0.89917	1.0	D	0.80764	0.994	T	0.24225	-1.0166	8	.	.	.	.	6.3223	0.21225	0.226:0.0:0.774:0.0	.	384	Q9NYW8	RBAK_HUMAN	H	384	ENSP00000275423:R384H;ENSP00000380120:R384H	.	R	+	2	0	RBAK	5070764	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.343000	0.07791	1.154000	0.42482	0.555000	0.69702	CGC		0.463	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		6	619	0	0	0	1	0	6	619				
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	rs200282759	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110.0	112.0	112.0					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		6	447	0	0	0	1	0	6	447				
KNG1	3827	broad.mit.edu	37	3	186443035	186443035	+	Missense_Mutation	SNP	C	C	T	rs562438530	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:186443035C>T	ENST00000265023.4	+	4	762	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	KNG1_ENST00000287611.2_Missense_Mutation_p.R184W|KNG1_ENST00000447445.1_Missense_Mutation_p.R184W|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	184	Cystatin kininogen-type 2. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGAAGTAAAACGGGCCCAAAG	0.398													C|||	3	0.000599042	0.0	0.0	5008	,	,		17984	0.0		0.0	False		,,,				2504	0.0031					ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(550-552)Cgg>Tgg		kininogen 1	Ouabain(DB01092)						100.0	90.0	93.0					3																	186443035		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186443035C>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.550C>T	3.37:g.186443035C>T	ENSP00000265023:p.Arg184Trp					KNG1_ENST00000447445.1_Missense_Mutation_p.R184W|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.R184W	p.R184W	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	4	762	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		184			Cystatin 2.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.550C>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170951	0.78452	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.30182	2.38;2.38;1.54	4.92	-1.75	0.08031	Proteinase inhibitor I25, cystatin (2);	1.061570	0.07280	N	0.870615	T	0.43033	0.1229	M	0.61703	1.905	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.66979	0.948;0.928	T	0.34477	-0.9827	10	0.72032	D	0.01	2.3875	1.214	0.01910	0.3907:0.174:0.2979:0.1373	.	184;184	P01042;P01042-2	KNG1_HUMAN;.	W	184;184;184;172	ENSP00000287611:R184W;ENSP00000265023:R184W;ENSP00000396025:R184W	ENSP00000265023:R184W	R	+	1	2	KNG1	187925729	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.332000	0.07904	-0.388000	0.07797	0.561000	0.74099	CGG		0.398	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		80	358	0	0	0	1	0	80	358				
ANKRD30A	91074	broad.mit.edu	37	10	37431019	37431019	+	Silent	SNP	C	C	T	rs199969776		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:37431019C>T	ENST00000602533.1	+	7	1125	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	ANKRD30A_ENST00000361713.1_Silent_p.P342P|ANKRD30A_ENST00000374660.1_Silent_p.P342P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	398					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTATGAGTCCCGCAAAAGAAA	0.433																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1024-1026)ccC>ccT		ankyrin repeat domain 30A							107.0	105.0	106.0					10																	37431019		1830	4085	5915	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431019C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1026C>T	10.37:g.37431019C>T						ANKRD30A_ENST00000602533.1_Silent_p.P342P|ANKRD30A_ENST00000361713.1_Silent_p.P342P	p.P342P			Q9BXX3	AN30A_HUMAN			7	1125	+			398					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1026C>T																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	604	0	0	0	1	0	6	604				
TXNDC2	84203	broad.mit.edu	37	18	9887461	9887461	+	Missense_Mutation	SNP	A	A	C	rs202224858		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:9887461A>C	ENST00000306084.6	+	2	1184	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.I262L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGAGGGTGACATCCCCAAGTC	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(985-987)Atc>Ctc		thioredoxin domain containing 2 (spermatozoa)																																				SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887461A>C	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.985A>C	18.37:g.9887461A>C	ENSP00000304908:p.Ile329Leu					TXNDC2_ENST00000357775.4_Missense_Mutation_p.I262L|TXNDC2_ENST00000536353.2_3'UTR	p.I329L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1184	+			329			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.985A>C	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	6.984	0.551687	0.13374	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16324	2.35;2.35	3.81	-5.69	0.02428	.	2.473800	0.01904	N	0.039389	T	0.09202	0.0227	L	0.28192	0.835	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.18524	-1.0334	9	.	.	.	-0.4461	0.3995	0.00423	0.2295:0.2558:0.2632:0.2515	.	329	Q86VQ3	TXND2_HUMAN	L	127;262;329;314	ENSP00000350419:I262L;ENSP00000304908:I329L	.	I	+	1	0	TXNDC2	9877461	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.133000	0.03232	-1.114000	0.02977	-0.321000	0.08615	ATC		0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	519	0	0	0	1	0	5	519				
TMEM87A	25963	broad.mit.edu	37	15	42503943	42503943	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:42503943C>T	ENST00000389834.4	-	20	1895	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	RP11-546B15.1_ENST00000561800.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.R483Q|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	544						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGTGATCATTCGTTCCTAGGG	0.368																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1630-1632)cGa>cAa		transmembrane protein 87A							227.0	218.0	221.0					15																	42503943		2203	4299	6502	SO:0001583	missense	25963					integral to membrane		g.chr15:42503943C>T	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1631G>A	15.37:g.42503943C>T	ENSP00000374484:p.Arg544Gln					TMEM87A_ENST00000448392.1_Missense_Mutation_p.R483Q|RP11-546B15.1_ENST00000563846.1_RNA	p.R544Q	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	20	1895	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	544					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.1631G>A	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635366	0.47049	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.37	4.46	0.54185	.	0.085860	0.49305	D	0.000141	T	0.31796	0.0808	N	0.19112	0.55	0.33298	D	0.564466	D	0.64830	0.994	P	0.47102	0.537	T	0.36866	-0.9730	9	0.20519	T	0.43	-6.2906	12.5403	0.56165	0.0:0.9238:0.0:0.0762	.	544	Q8NBN3	TM87A_HUMAN	Q	544;483;520	.	ENSP00000374484:R544Q	R	-	2	0	TMEM87A	40291235	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	2.962000	0.49176	1.501000	0.48654	-0.145000	0.13849	CGA		0.368	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		65	923	0	0	0	1	0	65	923				
QPCT	25797	broad.mit.edu	37	2	37571893	37571893	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:37571893C>T	ENST00000338415.3	+	1	177	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	QPCT_ENST00000537448.1_Missense_Mutation_p.R7W	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	7					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CGGAAGACACCGGCGCGTCGT	0.711																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(19-21)Cgg>Tgg		glutaminyl-peptide cyclotransferase							14.0	18.0	17.0					2																	37571893		2188	4274	6462	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37571893C>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.19C>T	2.37:g.37571893C>T	ENSP00000344829:p.Arg7Trp					QPCT_ENST00000537448.1_Missense_Mutation_p.R7W	p.R7W	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			1	177	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	7					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.19C>T	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451494	0.26074	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.31510	1.49;1.49;1.49	4.57	1.6	0.23607	.	1.023380	0.07800	N	0.956267	T	0.27594	0.0678	L	0.53249	1.67	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.04013	0.001;0.001	T	0.34104	-0.9842	10	0.66056	D	0.02	.	4.3052	0.10944	0.1911:0.5985:0.0:0.2104	.	7;7	Q16769-2;Q16769	.;QPCT_HUMAN	W	7	ENSP00000344829:R7W;ENSP00000385391:R7W;ENSP00000441606:R7W	ENSP00000344829:R7W	R	+	1	2	QPCT	37425397	0.000000	0.05858	0.028000	0.17463	0.209000	0.24338	-0.551000	0.06027	0.439000	0.26476	0.455000	0.32223	CGG		0.711	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			5	53	0	0	0	1	0	5	53				
ZNF256	10172	broad.mit.edu	37	19	58453978	58453978	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:58453978C>T	ENST00000282308.3	-	3	394	c.198G>A	c.(196-198)caG>caA	p.Q66Q	ZNF256_ENST00000598928.1_Missense_Mutation_p.S24N	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAGTGCTCTGCTGATAAGGTG	0.532																																					NSCLC(55;1313 1552 8040 11996)	ENST00000598928.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(70-72)aGc>aAc		zinc finger protein 256							102.0	102.0	102.0					19																	58453978		2203	4298	6501	SO:0001819	synonymous_variant	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453978C>T	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.198G>A	19.37:g.58453978C>T						ZNF256_ENST00000282308.3_Silent_p.Q66Q	p.S24N			Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	2	271	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	396			KRAB.		B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.71G>A	CCDS12966.1																																																																																				0.532	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			150	430	0	0	0	1	0	150	430				
ABCC10	89845	broad.mit.edu	37	6	43406443	43406443	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:43406443C>T	ENST00000372530.4	+	8	2252	c.2037C>T	c.(2035-2037)acC>acT	p.T679T	ABCC10_ENST00000244533.3_Silent_p.T651T	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	679	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AGTTTGCCACCATCCGAGACA	0.592																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1951-1953)acC>acT		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							122.0	112.0	115.0					6																	43406443		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43406443C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2037C>T	6.37:g.43406443C>T						ABCC10_ENST00000372530.4_Silent_p.T679T	p.T651T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	2312	+	all_lung(25;0.00536)		679			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.1953C>T	CCDS56430.1																																																																																				0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		36	313	0	0	0	1	0	36	313				
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs150470		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e6+1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11014937C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2528+1G>A	21.37:g.11014937C>T										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	808	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.328	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	4	205	0	0	0	1	0	4	205				
CELSR3	1951	broad.mit.edu	37	3	48677877	48677877	+	Silent	SNP	G	G	A	rs372356484		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:48677877G>A	ENST00000164024.4	-	34	9421	c.9141C>T	c.(9139-9141)taC>taT	p.Y3047Y	CELSR3_ENST00000544264.1_Silent_p.Y3052Y	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3047					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGCGACCGTAAGAGGCAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		13372	0.001		0.0	False		,,,				2504	0.0					ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9154-9156)taC>taT		cadherin, EGF LAG seven-pass G-type receptor 3		G		0,4404		0,0,2202	36.0	40.0	39.0		9141	-7.2	0.5	3		39	1,8579		0,1,4289	no	coding-synonymous	CELSR3	NM_001407.2		0,1,6491	AA,AG,GG		0.0117,0.0,0.0077		3047/3313	48677877	1,12983	2202	4290	6492	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677877G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9141C>T	3.37:g.48677877G>A						CELSR3_ENST00000164024.4_Silent_p.Y3047Y	p.Y3052Y			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9436	-			3047					O75092	Silent	SNP	ENST00000164024.4	37	c.9156C>T	CCDS2775.1																																																																																				0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		5	247	0	0	0	1	0	5	247				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	0							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		11	440	0	0	0	1	0	11	440				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	769	0	0	0	1	0	6	769				
TAF3	83860	broad.mit.edu	37	10	8006929	8006929	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:8006929C>T	ENST00000344293.5	+	3	1662	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAAATATGCCCCCCAACTT	0.488																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1456-1458)Ccc>Tcc		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							104.0	103.0	103.0					10																	8006929		1926	4123	6049	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006929C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1456C>T	10.37:g.8006929C>T	ENSP00000340271:p.Pro486Ser						p.P486S	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1662	+			486					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.1456C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223998	0.39300	.	.	ENSG00000165632	ENST00000344293	T	0.34859	1.34	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000003	T	0.53594	0.1806	M	0.80183	2.485	0.80722	D	1	D	0.56746	0.977	P	0.54460	0.753	T	0.56836	-0.7913	10	0.33940	T	0.23	-14.7526	14.6258	0.68621	0.0:0.93:0.0:0.07	.	486	Q5VWG9	TAF3_HUMAN	S	486	ENSP00000340271:P486S	ENSP00000340271:P486S	P	+	1	0	TAF3	8046935	1.000000	0.71417	0.983000	0.44433	0.035000	0.12851	4.211000	0.58507	1.389000	0.46526	0.650000	0.86243	CCC		0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		6	620	0	0	0	1	0	6	620				
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T	rs201390504		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119030980C>T	ENST00000449422.2	+	13	1669	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647																																						ENST00000307417.3																			1	Substitution - Missense(1)	p.T494M(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1480-1482)aCg>aTg		ATP-binding cassette, sub-family G (WHITE), member 4		C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	83.0	74.0	77.0		1481,1481	5.2	1.0	11		77	0,8590		0,0,4295	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	81,81	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	494/647,494/647	119030980	1,12989	2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119030980C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1481C>T	11.37:g.119030980C>T	ENSP00000406874:p.Thr494Met					ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M|ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M	p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	13	1845	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	494			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1481C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223466	0.95139	2.27E-4	0.0	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86992	0.2111	10	0.87932	D	0	-9.1283	18.9923	0.92798	0.0:1.0:0.0:0.0	.	494	Q9H172	ABCG4_HUMAN	M	494	ENSP00000304111:T494M;ENSP00000406874:T494M;ENSP00000434318:T494M	ENSP00000304111:T494M	T	+	2	0	ABCG4	118536190	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.629000	0.83207	2.720000	0.93068	0.558000	0.71614	ACG		0.647	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		88	318	0	0	0	1	0	88	318				
ABCG8	64241	broad.mit.edu	37	2	44102330	44102330	+	Missense_Mutation	SNP	G	G	A	rs376069170		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:44102330G>A	ENST00000272286.2	+	11	1624	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	512	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.G512W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CATCATCTACGGGATGCCCAC	0.562																																						ENST00000272286.2																			1	Substitution - Missense(1)	p.G512W(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1534-1536)Ggg>Agg		ATP-binding cassette, sub-family G (WHITE), member 8		G	ARG/GLY	0,4406		0,0,2203	85.0	78.0	80.0		1534	3.7	0.7	2		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCG8	NM_022437.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	512/674	44102330	1,13005	2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102330G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1534G>A	2.37:g.44102330G>A	ENSP00000272286:p.Gly512Arg						p.G512R	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			11	1624	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	512			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1534G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834015	0.50951	0.0	1.16E-4	ENSG00000143921	ENST00000272286	T	0.72394	-0.65	4.62	3.72	0.42706	ABC-2 type transporter (1);	0.264244	0.42821	N	0.000659	T	0.65165	0.2665	M	0.63428	1.95	0.44388	D	0.997299	P;P	0.39665	0.631;0.682	B;B	0.35859	0.135;0.212	T	0.62501	-0.6841	10	0.23891	T	0.37	.	14.5487	0.68050	0.0:0.1475:0.8525:0.0	.	511;512	Q9H221-2;Q9H221	.;ABCG8_HUMAN	R	512	ENSP00000272286:G512R	ENSP00000272286:G512R	G	+	1	0	ABCG8	43955834	1.000000	0.71417	0.729000	0.30791	0.885000	0.51271	6.127000	0.71642	0.913000	0.36797	0.467000	0.42956	GGG		0.562	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		69	324	0	0	0	1	0	69	324				
POTEH	23784	broad.mit.edu	37	22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.W71C(1)	NS(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(211-213)tgG>tgC		POTE ankyrin domain family, member H							110.0	126.0	120.0					22																	16287673		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287673C>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys						p.W71C	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	264	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.213G>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		15	2936	0	0	0	1	0	15	2936				
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369680.4_Silent_p.C502C					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498																																						ENST00000369680.4																			4	Substitution - coding silent(4)	p.C502C(2)|p.C545C(2)	lung(4)	endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1504-1506)tgC>tgT		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							174.0	154.0	161.0					10																	111630550		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111630550G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>T	10.37:g.111630550G>A						XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000502935.1_Silent_p.C545C	p.C502C	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	18	1754	-		Breast(234;0.174)	502						Silent	SNP	ENST00000502935.1	37	c.1506C>T	CCDS7560.2																																																																																				0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			6	559	0	0	0	1	0	6	559				
VPS13C	54832	broad.mit.edu	37	15	62283987	62283987	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383																																						ENST00000261517.5																			1	Substitution - coding silent(1)	p.G456G(1)	prostate(1)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1366-1368)ggG>ggA		vacuolar protein sorting 13 homolog C (S. cerevisiae)							125.0	131.0	129.0					15																	62283987		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62283987C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1368G>A	15.37:g.62283987C>T						VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G	p.G456G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			17	1441	-			456						Silent	SNP	ENST00000261517.5	37	c.1368G>A	CCDS32257.1																																																																																				0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		7	942	0	0	0	1	0	7	942				
SMCP	4184	broad.mit.edu	37	1	152857174	152857174	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152857174G>A	ENST00000368765.3	+	2	426	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537																																						ENST00000368765.3																			1	Substitution - coding silent(1)	p.P92P(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(274-276)ccG>ccA		sperm mitochondria-associated cysteine-rich protein							116.0	108.0	110.0					1																	152857174		2203	4300	6503	SO:0001819	synonymous_variant	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152857174G>A	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.276G>A	1.37:g.152857174G>A							p.P92P	NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	426	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		92					Q96A42	Silent	SNP	ENST00000368765.3	37	c.276G>A	CCDS1029.1																																																																																				0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		6	527	0	0	0	1	0	6	527				
CBL	867	broad.mit.edu	37	11	119144654	119144654	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119144654G>C	ENST00000264033.4	+	4	1043	c.667G>C	c.(667-669)Gct>Cct	p.A223P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	223	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAGGCCATGGCTCTGAAATC	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(667-669)Gct>Cct		Cbl proto-oncogene, E3 ubiquitin protein ligase							107.0	103.0	104.0					11																	119144654		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119144654G>C	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.667G>C	11.37:g.119144654G>C	ENSP00000264033:p.Ala223Pro						p.A223P	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	4	1043	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	223			Cbl-PTB.|EF-hand-like.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.667G>C	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337068	0.81801	.	.	ENSG00000110395	ENST00000264033	D	0.83250	-1.7	5.48	5.48	0.80851	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93244	0.6629	10	0.66056	D	0.02	-36.3416	19.3601	0.94434	0.0:0.0:1.0:0.0	.	223	P22681	CBL_HUMAN	P	223	ENSP00000264033:A223P	ENSP00000264033:A223P	A	+	1	0	CBL	118649864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.593000	0.87608	0.491000	0.48974	GCT		0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		34	297	0	0	0	1	0	34	297				
NBPF10	100132406	broad.mit.edu	37	1	145360626	145360626	+	Missense_Mutation	SNP	C	C	T	rs186721360		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:145360626C>T	ENST00000342960.5	+	74	9286	c.9251C>T	c.(9250-9252)aCt>aTt	p.T3084I	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	642						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGTTATTCGACTCCTTCAGGT	0.468																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9250-9252)aCt>aTt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145360626C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9251C>T	1.37:g.145360626C>T	ENSP00000345684:p.Thr3084Ile					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.T3084I	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	74	9286	+	all_hematologic(923;0.032)		3084					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9251C>T	CCDS53355.1	12	0.005494505494505495	2	0.0040650406504065045	2	0.0055248618784530384	2	0.0034965034965034965	6	0.0079155672823219	.	9.871	1.198855	0.22121	.	.	ENSG00000163386	ENST00000342960	T	0.18338	2.22	1.08	0.106	0.14540	.	.	.	.	.	T	0.17746	0.0426	M	0.80028	2.48	0.09310	N	1	D	0.58970	0.984	P	0.59595	0.86	T	0.05194	-1.0900	9	0.72032	D	0.01	.	3.3753	0.07235	0.0:0.7074:0.0:0.2926	.	2765	A6NDV3	.	I	3084	ENSP00000345684:T3084I	ENSP00000345684:T3084I	T	+	2	0	NBPF10	144071983	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	1.012000	0.29924	0.048000	0.15891	0.175000	0.17021	ACT		0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	68	0	0	0	1	0	4	68				
IL21	59067	broad.mit.edu	37	4	123542066	123542066	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:123542066C>T	ENST00000264497.3	-	1	158	c.101G>A	c.(100-102)cGc>cAc	p.R34H	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	27					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AATCATGTGGCGATCTTGACC	0.398																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(100-102)cGc>cAc		interleukin 21							139.0	133.0	135.0					4																	123542066		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542066C>T	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.101G>A	4.37:g.123542066C>T	ENSP00000264497:p.Arg34His					IL21-AS1_ENST00000417927.1_RNA	p.R34H	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	158	-			27					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.101G>A	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025754	0.35701	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.1	3.33	0.38152	.	0.278577	0.26092	N	0.026394	T	0.42988	0.1227	L	0.47716	1.5	0.32156	N	0.583601	B;B	0.14438	0.008;0.01	B;B	0.16289	0.009;0.015	T	0.48854	-0.8998	9	0.51188	T	0.08	-2.2109	8.1174	0.30950	0.1657:0.7506:0.0:0.0838	.	27;27	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	H	34	.	ENSP00000264497:R34H	R	-	2	0	IL21	123761516	0.000000	0.05858	0.925000	0.36789	0.899000	0.52679	0.295000	0.19065	0.683000	0.31428	0.655000	0.94253	CGC		0.398	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		40	379	0	0	0	1	0	40	379				
S1PR1	1901	broad.mit.edu	37	1	101705312	101705312	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:101705312G>A	ENST00000305352.6	+	2	1147	c.772G>A	c.(772-774)Gta>Ata	p.V258I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	258					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCAAGACCGTAATTATCGT	0.587																																						ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(772-774)Gta>Ata		sphingosine-1-phosphate receptor 1							93.0	93.0	93.0					1																	101705312		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705312G>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.772G>A	1.37:g.101705312G>A	ENSP00000305416:p.Val258Ile						p.V258I	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1147	+			258					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.772G>A	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632336	0.87660	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36878	1.23	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.55186	-0.8180	10	0.87932	D	0	.	18.848	0.92215	0.0:0.0:1.0:0.0	.	258	P21453	S1PR1_HUMAN	I	258	ENSP00000305416:V258I	ENSP00000305416:V258I	V	+	1	0	S1PR1	101477900	1.000000	0.71417	0.688000	0.30117	0.831000	0.47069	9.869000	0.99810	2.438000	0.82558	0.449000	0.29647	GTA		0.587	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		5	553	0	0	0	1	0	5	553				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		5	86	0	0	0	1	0	5	86				
ZFYVE9	9372	broad.mit.edu	37	1	52747411	52747411	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:52747411A>C	ENST00000371591.1	+	9	3079	c.2948A>C	c.(2947-2949)cAg>cCg	p.Q983P	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q924P|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.Q983P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	983					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATTCTTCTACAGTGTTTACCG	0.418																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(2947-2949)cAg>cCg		zinc finger, FYVE domain containing 9							201.0	174.0	183.0					1																	52747411		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52747411A>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2948A>C	1.37:g.52747411A>C	ENSP00000360647:p.Gln983Pro					ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Q983P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q924P	p.Q983P	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			10	3120	+			983					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.2948A>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563599	0.86335	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.58210	0.35;0.35;0.35	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	T	0.65554	0.2702	L	0.55481	1.735	0.80722	D	1	D;D	0.71674	0.998;0.989	P;D	0.63957	0.849;0.92	T	0.67711	-0.5600	10	0.54805	T	0.06	.	14.7338	0.69402	1.0:0.0:0.0:0.0	.	924;983	O95405-2;O95405	.;ZFYV9_HUMAN	P	924;983;983	ENSP00000349737:Q924P;ENSP00000287727:Q983P;ENSP00000360647:Q983P	ENSP00000287727:Q983P	Q	+	2	0	ZFYVE9	52519999	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	9.009000	0.93606	2.062000	0.61559	0.482000	0.46254	CAG		0.418	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		6	590	0	0	0	1	0	6	590				
OR7D2	162998	broad.mit.edu	37	19	9296718	9296718	+	Silent	SNP	C	C	T	rs139213903		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:9296718C>T	ENST00000344248.2	+	1	440	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	87					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACATCCAGACCGAGAACAAAG	0.507																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(259-261)acC>acT		olfactory receptor, family 7, subfamily D, member 2		C		0,4406		0,0,2203	167.0	155.0	159.0		261	-0.1	0.0	19	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR7D2	NM_175883.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		87/313	9296718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296718C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.261C>T	19.37:g.9296718C>T							p.T87T	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	440	+			87					Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	c.261C>T	CCDS32900.1																																																																																				0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			5	511	0	0	0	1	0	5	511				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1099	0	0	0	1	0	9	1099				
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		olfactory receptor, family 6, subfamily K, member 6							149.0	140.0	143.0					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu						p.F311L	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	1027	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		5	604	0	0	0	1	0	5	604				
ZNF496	84838	broad.mit.edu	37	1	247464376	247464376	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:247464376C>A	ENST00000294753.4	-	9	1673	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.K439N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	403					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTAGGACTTCTTGGAGGTCT	0.642																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1207-1209)aaG>aaT		zinc finger protein 496							44.0	43.0	43.0					1																	247464376		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464376C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1209G>T	1.37:g.247464376C>A	ENSP00000294753:p.Lys403Asn					ZNF496_ENST00000366498.2_Missense_Mutation_p.K439N|ZNF496_ENST00000462139.1_5'UTR	p.K403N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1673	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		403					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1209G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465499	0.43839	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.45276	0.9;0.9	4.65	-4.52	0.03472	Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.008270	0.07967	N	0.983345	T	0.24353	0.0590	N	0.19112	0.55	0.09310	N	0.999996	P;P	0.37276	0.589;0.454	B;B	0.36608	0.229;0.037	T	0.25012	-1.0144	10	0.59425	D	0.04	-7.8109	6.9593	0.24587	0.0:0.3763:0.1183:0.5054	.	439;403	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	N	403;439	ENSP00000294753:K403N;ENSP00000355454:K439N	ENSP00000294753:K403N	K	-	3	2	ZNF496	245530999	0.001000	0.12720	0.003000	0.11579	0.217000	0.24651	-0.786000	0.04623	-1.039000	0.03275	-0.140000	0.14226	AAG		0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		10	265	1	0	0.000442599	1	0.000453997	10	265				
CCDC144CP	348254	broad.mit.edu	37	17	20239291	20239291	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:20239291G>A	ENST00000340196.4	+	0	715							Q8IYA2	C144C_HUMAN	coiled-coil domain containing 144C, pseudogene																		GAACTTAACAGAACGAGAAAA	0.418																																						ENST00000340196.4																			0																																																			0							g.chr17:20239291G>A			17p11.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000154898	ENSG00000154898			29073	pseudogene	pseudogene			"""coiled-coil domain containing 144C"""	CCDC144C		11997339	Standard	NR_023380		Approved		uc010cqy.1	Q8IYA2	OTTHUMG00000059513		17.37:g.20239291G>A														0	715	+								B7WNP5	RNA	SNP	ENST00000340196.4	37			.	.	.	.	.	.	.	.	.	.	.	3.842	-0.033617	0.07543	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	2.47	1.47	0.22746	.	.	.	.	.	T	0.44767	0.1309	.	.	.	0.22017	N	0.999417	.	.	.	.	.	.	T	0.52704	-0.8540	4	0.59425	D	0.04	.	4.7006	0.12825	0.1944:0.0:0.8056:0.0	.	.	.	.	K	188	.	ENSP00000343605:E188K	E	+	1	0	CCDC144C	20179883	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.425000	0.21346	0.228000	0.21019	0.306000	0.20318	GAA		0.418	CCDC144CP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132378.2	NR_023380		6	546	0	0	0	1	0	6	546				
PUSL1	126789	broad.mit.edu	37	1	1244928	1244928	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:1244928C>T	ENST00000379031.5	+	4	495	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ACAP3_ENST00000354700.5_5'Flank|ACAP3_ENST00000353662.3_5'Flank|PUSL1_ENST00000470520.1_3'UTR|CPSF3L_ENST00000462432.1_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	140					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGCTGTCACCGGCGTGATGA	0.687																																						ENST00000379031.5																			0				lung(3)|skin(1)|urinary_tract(1)	5						c.(418-420)Cgg>Tgg		pseudouridylate synthase-like 1							24.0	24.0	24.0					1																	1244928		2179	4285	6464	SO:0001583	missense	126789				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr1:1244928C>T	AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.418C>T	1.37:g.1244928C>T	ENSP00000368318:p.Arg140Trp					PUSL1_ENST00000470520.1_3'UTR	p.R140W	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	495	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	140					B4DP76|Q5TA41	Missense_Mutation	SNP	ENST00000379031.5	37	c.418C>T	CCDS20.1	.	.	.	.	.	.	.	.	.	.	c	5.473	0.272323	0.10349	.	.	ENSG00000169972	ENST00000379031	T	0.58358	0.34	4.49	-8.47	0.00939	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);	1.673000	0.04521	U	0.384611	T	0.38585	0.1046	L	0.56769	1.78	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.26849	-1.0091	10	0.46703	T	0.11	-0.6521	0.5893	0.00725	0.2258:0.1719:0.3063:0.296	.	140	Q8N0Z8	PUSL1_HUMAN	W	140	ENSP00000368318:R140W	ENSP00000368318:R140W	R	+	1	2	PUSL1	1234791	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.823000	0.01710	-1.684000	0.01443	-0.389000	0.06534	CGG		0.687	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009438.1	NM_153339		13	78	0	0	0	1	0	13	78				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	488	0	0	0	1	0	6	488				
KCND3	3752	broad.mit.edu	37	1	112525004	112525004	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:112525004G>A	ENST00000315987.2	-	2	824	c.345C>T	c.(343-345)gaC>gaT	p.D115D	KCND3_ENST00000369697.1_Silent_p.D115D|KCND3_ENST00000302127.4_Silent_p.D115D	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	115					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCAGCTCGTCGTCGTAGGCAG	0.627																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(343-345)gaC>gaT		potassium voltage-gated channel, Shal-related subfamily, member 3							98.0	86.0	90.0					1																	112525004		2203	4300	6503	SO:0001819	synonymous_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112525004G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.345C>T	1.37:g.112525004G>A						KCND3_ENST00000302127.4_Silent_p.D115D|KCND3_ENST00000315987.2_Silent_p.D115D	p.D115D			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	414	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	115					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	c.345C>T	CCDS843.1																																																																																				0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		30	269	0	0	0	1	0	30	269				
MYH9	4627	broad.mit.edu	37	22	36681954	36681954	+	Missense_Mutation	SNP	G	G	A	rs569541375		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36681954G>A	ENST00000216181.5	-	36	5337	c.5107C>T	c.(5107-5109)Cgg>Tgg	p.R1703W	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1703					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTCATCCCGCTCCTGCTGG	0.652			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				.|||	1	0.000199681	0.0	0.0	5008	,	,		12435	0.001		0.0	False		,,,				2504	0.0					ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5107-5109)Cgg>Tgg		myosin, heavy chain 9, non-muscle							53.0	50.0	51.0					22																	36681954		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681954G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5107C>T	22.37:g.36681954G>A	ENSP00000216181:p.Arg1703Trp					MYH9_ENST00000475726.1_5'UTR	p.R1703W	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			36	5337	-			1703					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.5107C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472320	0.63737	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.79141	-1.24	4.96	3.85	0.44370	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90126	0.4203	10	0.72032	D	0.01	.	12.1412	0.53998	0.0:0.0:0.6943:0.3057	.	1703	P35579	MYH9_HUMAN	W	1125;305;1703	ENSP00000216181:R1703W	ENSP00000216181:R1703W	R	-	1	2	MYH9	35011900	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	3.738000	0.55067	2.294000	0.77228	0.306000	0.20318	CGG		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	218	0	0	0	1	0	4	218				
ATP8B3	148229	broad.mit.edu	37	19	1791840	1791840	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:1791840G>A	ENST00000310127.6	-	20	2449	c.2211C>T	c.(2209-2211)atC>atT	p.I737I	ATP8B3_ENST00000539485.1_Silent_p.I747I|ATP8B3_ENST00000525591.1_Silent_p.I700I	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	737					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GTCTGTCCTCGATGGCTGTGG	0.627																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(2239-2241)atC>atT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							54.0	56.0	55.0					19																	1791840		2040	4180	6220	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1791840G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2211C>T	19.37:g.1791840G>A						ATP8B3_ENST00000310127.6_Silent_p.I737I|ATP8B3_ENST00000525591.1_Silent_p.I700I	p.I747I			O60423	AT8B3_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)	20	2474	-		Hepatocellular(1079;0.137)	737					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.2241C>T	CCDS45901.1																																																																																				0.627	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		4	193	0	0	0	1	0	4	193				
ANK2	287	broad.mit.edu	37	4	114275125	114275125	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:114275125G>A	ENST00000357077.4	+	38	5404	c.5351G>A	c.(5350-5352)cGa>cAa	p.R1784Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1751Q|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1784					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|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 heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAAAGGTCGAAGCAAGTTG	0.498																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5350-5352)cGa>cAa		ankyrin 2, neuronal							138.0	148.0	144.0					4																	114275125		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275125G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5351G>A	4.37:g.114275125G>A	ENSP00000349588:p.Arg1784Gln					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1751Q|ANK2_ENST00000394537.3_Intron	p.R1784Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5404	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1751			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5351G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124084	0.77436	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69435	-0.4;-0.36	5.7	5.7	0.88788	.	0.000000	0.50627	D	0.000101	T	0.76076	0.3937	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.994;0.998	P;P	0.59595	0.716;0.86	T	0.74054	-0.3788	9	.	.	.	.	18.0216	0.89257	0.0:0.0:1.0:0.0	.	1751;1784	Q01484;Q01484-4	ANK2_HUMAN;.	Q	1784;1751	ENSP00000349588:R1784Q;ENSP00000264366:R1751Q	.	R	+	2	0	ANK2	114494574	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.512000	0.53407	2.683000	0.91414	0.655000	0.94253	CGA		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		93	702	0	0	0	1	0	93	702				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	679	0	0	0	1	0	5	679				
FAM193A	8603	broad.mit.edu	37	4	2702034	2702034	+	Missense_Mutation	SNP	G	G	A	rs139214563	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:2702034G>A	ENST00000324666.5	+	17	3613	c.3262G>A	c.(3262-3264)Gac>Aac	p.D1088N	FAM193A_ENST00000502458.1_Missense_Mutation_p.D1110N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D1088N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1088										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAGGTGGTCGACCTCATGTC	0.542													G|||	9	0.00179712	0.0068	0.0	5008	,	,		16812	0.0		0.0	False		,,,				2504	0.0					ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(3262-3264)Gac>Aac		family with sequence similarity 193, member A		G	ASN/ASP	27,4379	33.5+/-64.1	0,27,2176	49.0	47.0	48.0		3262	4.9	0.0	4	dbSNP_134	48	0,8600		0,0,4300	yes	missense	FAM193A	NM_003704.3	23	0,27,6476	AA,AG,GG		0.0,0.6128,0.2076	possibly-damaging	1088/1225	2702034	27,12979	2203	4300	6503	SO:0001583	missense	8603							g.chr4:2702034G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3262G>A	4.37:g.2702034G>A	ENSP00000324587:p.Asp1088Asn					FAM193A_ENST00000505311.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D1088N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D1110N	p.D1088N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			17	3613	+			1088					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.3262G>A	CCDS58875.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.038	0.988898	0.18966	0.006128	0.0	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;1.43	5.7	4.86	0.63082	.	0.487155	0.22559	N	0.058494	T	0.22360	0.0539	L	0.36672	1.1	0.09310	N	1	B;B;P;B;B	0.49253	0.012;0.012;0.921;0.012;0.012	B;B;B;B;B	0.35971	0.005;0.005;0.215;0.005;0.005	T	0.08411	-1.0723	10	0.28530	T	0.3	-8.008	13.732	0.62794	0.0736:0.0:0.9264:0.0	.	1088;1110;1088;1110;1088	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	1088;1088;1088;1110;942	ENSP00000372290:D1088N;ENSP00000324587:D1088N;ENSP00000443617:D1088N;ENSP00000427505:D1110N;ENSP00000427260:D942N	ENSP00000324587:D1088N	D	+	1	0	FAM193A	2671832	1.000000	0.71417	0.024000	0.17045	0.022000	0.10575	5.299000	0.65716	1.425000	0.47237	0.655000	0.94253	GAC		0.542	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		12	110	0	0	0	1	0	12	110				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	545	0	0	0	1	0	7	545				
DRD5	1816	broad.mit.edu	37	4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGCTGGTCATGCCCTGGAAGG	0.637																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(283-285)atG>atA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)																																			SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783938G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.285G>A	4.37:g.9783938G>A	ENSP00000306129:p.Met95Ile						p.M95I	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	681	+			95					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.285G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.389198	0.82902	.	.	ENSG00000169676	ENST00000304374	T	0.73363	-0.74	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.72118	2.19	0.80722	D	1	B	0.27068	0.167	B	0.29942	0.109	T	0.76929	-0.2777	10	0.59425	D	0.04	.	15.5246	0.75894	0.0:0.0:1.0:0.0	.	95	P21918	DRD5_HUMAN	I	95	ENSP00000306129:M95I	ENSP00000306129:M95I	M	+	3	0	DRD5	9393036	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.199000	0.95003	2.130000	0.65690	0.305000	0.20034	ATG		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			5	219	0	0	0	1	0	5	219				
TRIM51HP	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CACTGAGCAACAACTGCCATG	0.488																																						ENST00000526016.1																			0																																																			0							g.chr11:55065601C>G			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065601C>G								NR_038174.2						0	107	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.488	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			4	169	0	0	0	1	0	4	169				
TMEM74B	55321	broad.mit.edu	37	20	1161700	1161700	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:1161700C>T	ENST00000381894.3	-	2	1234	c.563G>A	c.(562-564)gGc>gAc	p.G188D	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	188						integral component of membrane (GO:0016021)											CAAGAGCATGCCGCCCACCGT	0.657																																						ENST00000381894.3																			0											c.(562-564)gGc>gAc		transmembrane protein 74B							54.0	40.0	45.0					20																	1161700		2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1161700C>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.563G>A	20.37:g.1161700C>T	ENSP00000371318:p.Gly188Asp						p.G188D	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	1234	-			188					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.563G>A	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694216	0.88735	.	.	ENSG00000125895	ENST00000381894	T	0.25912	1.77	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000004	T	0.50377	0.1612	M	0.72353	2.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.56384	-0.7988	10	0.87932	D	0	-14.8878	15.6112	0.76721	0.0:1.0:0.0:0.0	.	188	Q9NUR3	CT046_HUMAN	D	188	ENSP00000371318:G188D	ENSP00000371318:G188D	G	-	2	0	C20orf46	1109700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.186000	0.69663	0.655000	0.94253	GGC		0.657	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		5	350	0	0	0	1	0	5	350				
RIMS4	140730	broad.mit.edu	37	20	43384834	43384834	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:43384834G>A	ENST00000372851.3	-	6	817	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R252W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	251					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GATGCCTGCCGGAGCAGGGGG	0.662																																						ENST00000372851.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(751-753)Cgg>Tgg		regulating synaptic membrane exocytosis 4							59.0	59.0	59.0					20																	43384834		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43384834G>A		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.751C>T	20.37:g.43384834G>A	ENSP00000361942:p.Arg251Trp					RIMS4_ENST00000541604.2_Missense_Mutation_p.R252W	p.R251W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			6	817	-		Myeloproliferative disorder(115;0.0122)	251					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.751C>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044559	0.75732	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.24151	1.87;1.87	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.44802	-0.9304	10	0.87932	D	0	.	13.2074	0.59805	0.0:0.0:0.8409:0.1591	.	252;251	E1P613;Q9H426	.;RIMS4_HUMAN	W	251;252	ENSP00000361942:R251W;ENSP00000439287:R252W	ENSP00000361942:R251W	R	-	1	2	RIMS4	42818248	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.563000	0.67352	2.285000	0.76669	0.563000	0.77884	CGG		0.662	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		96	310	0	0	0	1	0	96	310				
NBEAL1	65065	broad.mit.edu	37	2	204009335	204009335	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:204009335G>A	ENST00000449802.1	+	31	5107	c.4774G>A	c.(4774-4776)Gca>Aca	p.A1592T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1592										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGTGCAATGGCATCAGCTAA	0.403																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4774-4776)Gca>Aca		neurobeachin-like 1							107.0	95.0	99.0					2																	204009335		1890	4117	6007	SO:0001583	missense	65065						binding	g.chr2:204009335G>A	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4774G>A	2.37:g.204009335G>A	ENSP00000399903:p.Ala1592Thr						p.A1592T	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			31	5107	+			1592					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4774G>A	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198565	0.94997	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.74106	-0.81	5.8	5.8	0.92144	.	0.798454	0.11851	N	0.523346	D	0.88074	0.6339	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86728	0.1946	10	0.87932	D	0	.	19.6495	0.95795	0.0:0.0:1.0:0.0	.	1592;1581	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	T	1592	ENSP00000399903:A1592T	ENSP00000344985:A1592T	A	+	1	0	NBEAL1	203717580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.748000	0.94277	0.655000	0.94253	GCA		0.403	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			5	417	0	0	0	1	0	5	417				
RAG1	5896	broad.mit.edu	37	11	36597180	36597180	+	Missense_Mutation	SNP	C	C	T	rs121918572		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:36597180C>T	ENST00000299440.5	+	2	2438	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	776					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R776R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAACTGCGGGATCGGGT	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - coding silent(1)	p.R776R(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM090373	RAG1	M	rs121918572	c.(2326-2328)Cgg>Tgg		recombination activating gene 1							80.0	78.0	79.0					11																	36597180		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597180C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2326C>T	11.37:g.36597180C>T	ENSP00000299440:p.Arg776Trp						p.R776W	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2438	+	all_lung(20;0.226)	all_hematologic(20;0.107)	776					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2326C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095241	0.56075	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88046	-2.33;-2.33	6.13	-0.167	0.13347	.	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96683	0.9505	10	0.87932	D	0	.	18.3544	0.90352	0.5232:0.4768:0.0:0.0	.	776	P15918	RAG1_HUMAN	W	776	ENSP00000434610:R776W;ENSP00000299440:R776W	ENSP00000299440:R776W	R	+	1	2	RAG1	36553756	0.995000	0.38212	0.906000	0.35671	0.895000	0.52256	0.749000	0.26320	0.086000	0.17137	0.644000	0.83932	CGG		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		42	380	0	0	0	1	0	42	380				
EPHA4	2043	broad.mit.edu	37	2	222307700	222307700	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:222307700T>G	ENST00000281821.2	-	11	1964	c.1923A>C	c.(1921-1923)aaA>aaC	p.K641N	EPHA4_ENST00000409854.1_Missense_Mutation_p.K641N|EPHA4_ENST00000409938.1_Missense_Mutation_p.K641N|EPHA4_ENST00000392071.4_Missense_Mutation_p.K590N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	641	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCCAGGCACTTTGAGACGCC	0.448																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1921-1923)aaA>aaC		EPH receptor A4							130.0	125.0	127.0					2																	222307700		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222307700T>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1923A>C	2.37:g.222307700T>G	ENSP00000281821:p.Lys641Asn					EPHA4_ENST00000409938.1_Missense_Mutation_p.K641N|EPHA4_ENST00000409854.1_Missense_Mutation_p.K641N|EPHA4_ENST00000392071.4_Missense_Mutation_p.K590N	p.K641N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	11	1964	-		Renal(207;0.0183)	641			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1923A>C	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785330	0.70337	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	6.06	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84642	0.5517	L	0.47078	1.49	0.58432	D	0.999997	P	0.52463	0.953	P	0.58454	0.839	D	0.84672	0.0712	10	0.87932	D	0	.	8.1583	0.31183	0.0:0.2111:0.0:0.7889	.	641	P54764	EPHA4_HUMAN	N	641;641;641;590	ENSP00000281821:K641N;ENSP00000386276:K641N;ENSP00000386829:K641N;ENSP00000375923:K590N	ENSP00000281821:K641N	K	-	3	2	EPHA4	222015944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.233000	0.32648	1.121000	0.41925	0.533000	0.62120	AAA		0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			34	476	0	0	0	1	0	34	476				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	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						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	158	0	0	0	1	0	6	158				
OLFM1	10439	broad.mit.edu	37	9	138011686	138011686	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138011686G>A	ENST00000371793.3	+	6	1371	c.1120G>A	c.(1120-1122)Gct>Act	p.A374T	OLFM1_ENST00000252854.4_Missense_Mutation_p.A356T|OLFM1_ENST00000371796.3_Missense_Mutation_p.A347T	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	374	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAACCAGAACGCTGGCAACAT	0.627																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(1066-1068)Gct>Act		olfactomedin 1							76.0	58.0	64.0					9																	138011686		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011686G>A	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1120G>A	9.37:g.138011686G>A	ENSP00000360858:p.Ala374Thr					OLFM1_ENST00000371793.3_Missense_Mutation_p.A374T|OLFM1_ENST00000371796.3_Missense_Mutation_p.A347T	p.A356T	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	1253	+		Myeloproliferative disorder(178;0.0333)	374			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.1066G>A		.	.	.	.	.	.	.	.	.	.	G	24.8	4.567026	0.86439	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.88896	-2.44;-2.44;-2.44	4.79	4.79	0.61399	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.92348	0.7572	L	0.42686	1.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93259	0.6641	10	0.66056	D	0.02	.	17.8435	0.88722	0.0:0.0:1.0:0.0	.	374;356	Q99784;Q6IMJ8	NOE1_HUMAN;.	T	356;347;374	ENSP00000252854:A356T;ENSP00000360861:A347T;ENSP00000360858:A374T	ENSP00000252854:A356T	A	+	1	0	OLFM1	137151507	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	9.571000	0.98176	2.214000	0.71695	0.561000	0.74099	GCT		0.627	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		21	125	0	0	0	1	0	21	125				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	rs193920774		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000420246.2_Missense_Mutation_p.G266V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							50.0	44.0	46.0					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V	p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	48	1	0	9.04412e-07	1	9.48046e-07	27	48				
SIGLEC1	6614	broad.mit.edu	37	20	3674202	3674202	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:3674202T>C	ENST00000344754.4	-	13	3399	c.3400A>G	c.(3400-3402)Atc>Gtc	p.I1134V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.I1134V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1134	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGGGGATGGAGTGGGCA	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3400-3402)Atc>Gtc		sialic acid binding Ig-like lectin 1, sialoadhesin							62.0	48.0	53.0					20																	3674202		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674202T>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3400A>G	20.37:g.3674202T>C	ENSP00000341141:p.Ile1134Val					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.I1134V	p.I1134V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			13	3399	-			1134			Ig-like C2-type 11.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3400A>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	5.206	0.223588	0.09863	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.11712	2.75;2.75	5.52	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000692	T	0.09024	0.0223	L	0.35542	1.07	0.24899	N	0.992116	B;B	0.19935	0.04;0.014	B;B	0.24974	0.057;0.027	T	0.22695	-1.0209	10	0.45353	T	0.12	.	9.2318	0.37441	0.0:0.0:0.3576:0.6424	.	1134;1134	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	1134	ENSP00000341141:I1134V;ENSP00000202578:I1134V	ENSP00000202578:I1134V	I	-	1	0	SIGLEC1	3622202	1.000000	0.71417	0.930000	0.37139	0.011000	0.07611	0.477000	0.22196	0.915000	0.36847	0.533000	0.62120	ATC		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		11	117	0	0	0	1	0	11	117				
EMC10	284361	broad.mit.edu	37	19	50983419	50983419	+	Missense_Mutation	SNP	G	G	A	rs140693786	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:50983419G>A	ENST00000334976.6	+	4	395	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000376918.3_Missense_Mutation_p.G117R|EMC10_ENST00000598585.1_Missense_Mutation_p.G117R	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	117						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											AAGGCGACCCGGGGCCCTGGA	0.637													G|||	7	0.00139776	0.0	0.0	5008	,	,		17306	0.001		0.006	False		,,,				2504	0.0					ENST00000376918.3																			0											c.(349-351)Ggg>Agg		ER membrane protein complex subunit 10		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	75.0	68.0	70.0		349,349	2.9	0.2	19	dbSNP_134	70	41,8559	26.8+/-75.7	0,41,4259	yes	missense,missense	C19orf63	NM_175063.4,NM_206538.2	125,125	0,42,6461	AA,AG,GG		0.4767,0.0227,0.3229	probably-damaging,probably-damaging	117/255,117/263	50983419	42,12964	2203	4300	6503	SO:0001583	missense	284361							g.chr19:50983419G>A	BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.349G>A	19.37:g.50983419G>A	ENSP00000334037:p.Gly117Arg					CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Missense_Mutation_p.G117R|EMC10_ENST00000598585.1_Missense_Mutation_p.G117R	p.G117R	NM_175063.4	NP_778233.4					4	395	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	ENST00000334976.6	37	c.349G>A	CCDS12796.1	6	0.0027472527472527475	0	0.0	0	0.0	1	0.0017482517482517483	5	0.006596306068601583	G	11.41	1.631978	0.29068	2.27E-4	0.004767	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	3.92	2.87	0.33458	.	0.113318	0.64402	D	0.000018	T	0.59622	0.2207	L	0.59436	1.845	0.40649	D	0.982016	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.975;1.0;0.985	T	0.61422	-0.7066	9	0.16896	T	0.51	-32.1407	11.1387	0.48390	0.097:0.0:0.903:0.0	.	117;117;117	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	R	117	.	ENSP00000334037:G117R	G	+	1	0	C19orf63	55675231	0.903000	0.30736	0.198000	0.23420	0.025000	0.11179	1.555000	0.36277	0.939000	0.37446	-0.258000	0.10820	GGG		0.637	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		9	84	0	0	0	1	0	9	84				
TBC1D9	23158	broad.mit.edu	37	4	141543566	141543566	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:141543566C>A	ENST00000442267.2	-	21	3658	c.3584G>T	c.(3583-3585)gGc>gTc	p.G1195V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1195							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCCGCCGTGCCCTGGCCGCT	0.662																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3583-3585)gGc>gTc		TBC1 domain family, member 9 (with GRAM domain)							30.0	35.0	33.0					4																	141543566		2099	4197	6296	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543566C>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3584G>T	4.37:g.141543566C>A	ENSP00000411197:p.Gly1195Val						p.G1195V	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3658	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1195					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3584G>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113280	0.37339	.	.	ENSG00000109436	ENST00000442267	T	0.26957	1.7	5.01	5.01	0.66863	.	0.419120	0.26951	N	0.021662	T	0.21509	0.0518	L	0.53249	1.67	0.58432	D	0.999999	B	0.30763	0.294	B	0.24974	0.057	T	0.03739	-1.1008	10	0.23302	T	0.38	.	9.4508	0.38725	0.0:0.9038:0.0:0.0962	.	1195	Q6ZT07	TBCD9_HUMAN	V	1195	ENSP00000411197:G1195V	ENSP00000411197:G1195V	G	-	2	0	TBC1D9	141763016	0.014000	0.17966	0.914000	0.36105	0.931000	0.56810	0.503000	0.22610	2.319000	0.78375	0.655000	0.94253	GGC		0.662	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		9	88	1	0	2.17888e-05	1	2.26414e-05	9	88				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	797	0	0	0	1	0	6	797				
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:43345029C>T	ENST00000585780.1	+	0	2078				MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA					MAP3K14 antisense RNA 1																		AAAGCTCTCTCGGCTGGGCAT	0.607																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							98.0	106.0	103.0					17																	43345029		1906	4123	6029			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43345029C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43345029C>T						MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA				Q99558	M3K14_HUMAN			0	2175	-									RNA	SNP	ENST00000585780.1	37																																																																																						0.607	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		45	587	0	0	0	1	0	45	587				
APOL5	80831	broad.mit.edu	37	22	36122258	36122258	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36122258C>T	ENST00000249044.2	+	3	143	c.143C>T	c.(142-144)cCc>cTc	p.P48L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	48					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						ATGTCTTTAGCCTCACTCGTG	0.443																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.e3-1		apolipoprotein L, 5							101.0	94.0	96.0					22																	36122258		2203	4300	6503	SO:0001630	splice_region_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122258C>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.143-1C>T	22.37:g.36122258C>T							p.P48_splice	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	143	+			48					Q5TFL9|Q9UGW5	Splice_Site	SNP	ENST00000249044.2	37	c.142_splice	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803589	0.31869	.	.	ENSG00000128313	ENST00000249044	T	0.04049	3.72	2.15	-4.31	0.03698	.	4.487750	0.01131	U	0.005995	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.40534	-0.9558	9	.	.	.	.	4.0884	0.09958	0.0:0.2062:0.369:0.4248	.	48	Q9BWW9	APOL5_HUMAN	L	48	ENSP00000249044:P48L	.	P	+	2	0	APOL5	34452204	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.097000	0.03349	-1.277000	0.02411	-0.731000	0.03576	CCC		0.443	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642	Missense_Mutation	24	240	0	0	0	1	0	24	240				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	458	0	0	0	1	0	6	458				
FTMT	94033	broad.mit.edu	37	5	121188321	121188321	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:121188321G>A	ENST00000321339.1	+	1	672	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	221					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGGGGCCCCGGATGCTGGCC	0.502																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(661-663)ccG>ccA		ferritin mitochondrial							103.0	116.0	112.0					5																	121188321		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188321G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.663G>A	5.37:g.121188321G>A							p.P221P	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	672	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	221						Silent	SNP	ENST00000321339.1	37	c.663G>A	CCDS4128.1																																																																																				0.502	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		8	650	0	0	0	1	0	8	650				
RPL36AL	6166	broad.mit.edu	37	14	50085694	50085694	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085694C>T	ENST00000298289.6	-	2	288	c.129G>A	c.(127-129)cgG>cgA	p.R43R	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	43					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CACTCTGCTTCCGATCATAGC	0.483																																						ENST00000298289.6																			0											c.(127-129)cgG>cgA		ribosomal protein L36a-like							120.0	112.0	115.0					14																	50085694		2203	4300	6503	SO:0001819	synonymous_variant	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085694C>T	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.129G>A	14.37:g.50085694C>T							p.R43R	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	288	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		43					Q3B7A5	Silent	SNP	ENST00000298289.6	37	c.129G>A	CCDS9689.1																																																																																				0.483	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			10	732	0	0	0	1	0	10	732				
GFOD2	81577	broad.mit.edu	37	16	67709902	67709902	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:67709902C>T	ENST00000268797.7	-	3	659	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	105					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGTCACCATCCGGAAGGCATC	0.537																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(313-315)cGg>cAg		glucose-fructose oxidoreductase domain containing 2							70.0	51.0	58.0					16																	67709902		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709902C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.314G>A	16.37:g.67709902C>T	ENSP00000268797:p.Arg105Gln					GFOD2_ENST00000602377.1_5'UTR	p.R105Q	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	659	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	105					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.314G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454598	0.84209	.	.	ENSG00000141098	ENST00000268797	T	0.23348	1.91	4.99	4.99	0.66335	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.102199	0.64402	D	0.000004	T	0.24005	0.0581	L	0.51853	1.615	0.36424	D	0.864483	B	0.34103	0.437	B	0.33392	0.163	T	0.17561	-1.0365	10	0.22706	T	0.39	-34.9241	13.9291	0.63983	0.0:0.8474:0.1525:0.0	.	105	Q3B7J2	GFOD2_HUMAN	Q	105	ENSP00000268797:R105Q	ENSP00000268797:R105Q	R	-	2	0	GFOD2	66267403	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.401000	0.44513	2.468000	0.83385	0.563000	0.77884	CGG		0.537	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		11	112	0	0	0	1	0	11	112				
DENND5A	23258	broad.mit.edu	37	11	9192301	9192301	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:9192301C>T	ENST00000328194.3	-	9	2250	c.1930G>A	c.(1930-1932)Gca>Aca	p.A644T	DENND5A_ENST00000527700.1_5'UTR|DENND5A_ENST00000530044.1_Missense_Mutation_p.A644T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	644					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAATTTTTGCCAGACGCAGC	0.413																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1930-1932)Gca>Aca		DENN/MADD domain containing 5A							163.0	159.0	161.0					11																	9192301		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9192301C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1930G>A	11.37:g.9192301C>T	ENSP00000328524:p.Ala644Thr					DENND5A_ENST00000527700.1_5'UTR|DENND5A_ENST00000530044.1_Missense_Mutation_p.A644T	p.A644T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			9	2250	-			644					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.1930G>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055038	0.19907	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.03831	3.79;3.79	5.84	4.94	0.65067	.	0.422030	0.28176	N	0.016313	T	0.01976	0.0062	N	0.02011	-0.69	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.002;0.004	T	0.51180	-0.8738	10	0.13853	T	0.58	.	9.6869	0.40105	0.1404:0.7892:0.0:0.0703	.	644;644	E9PS91;Q6IQ26	.;DEN5A_HUMAN	T	644	ENSP00000328524:A644T;ENSP00000435866:A644T	ENSP00000328524:A644T	A	-	1	0	DENND5A	9148877	0.992000	0.36948	1.000000	0.80357	0.744000	0.42396	0.839000	0.27586	1.485000	0.48380	0.561000	0.74099	GCA		0.413	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		7	764	0	0	0	1	0	7	764				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		66	168	1	0	9.31514e-26	1	1.00738e-25	66	168				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		9	410	0	0	0	1	0	9	410				
SEMA4G	57715	broad.mit.edu	37	10	102743445	102743445	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:102743445G>A	ENST00000370250.4	+	14	2447	c.2074G>A	c.(2074-2076)Gcc>Acc	p.A692T	SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|SEMA4G_ENST00000210633.3_Missense_Mutation_p.A697T|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000370241.3_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	692					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCTCATCCTGGCCTCCTCCCT	0.642																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2089-2091)Gcc>Acc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							59.0	54.0	56.0					10																	102743445		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743445G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2074G>A	10.37:g.102743445G>A	ENSP00000359270:p.Ala692Thr					SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.A692T|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron	p.A697T			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2167	+		Colorectal(252;0.234)	692					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.2089G>A		.	.	.	.	.	.	.	.	.	.	g	8.197	0.797197	0.16327	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.17054	2.3;2.37	5.53	5.53	0.82687	.	0.842932	0.11009	N	0.609640	T	0.07818	0.0196	N	0.04880	-0.145	0.30368	N	0.783125	B	0.25667	0.131	B	0.16289	0.015	T	0.16808	-1.0390	10	0.13108	T	0.6	.	8.7621	0.34680	0.0779:0.0:0.7717:0.1503	.	697	Q9NTN9-2	.	T	692;697	ENSP00000359270:A692T;ENSP00000210633:A697T	ENSP00000210633:A697T	A	+	1	0	SEMA4G	102733435	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.420000	0.59841	2.613000	0.88420	0.550000	0.68814	GCC		0.642	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			13	66	0	0	0	1	0	13	66				
DACT1	51339	broad.mit.edu	37	14	59113461	59113461	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:59113461C>T	ENST00000335867.4	+	4	2144	c.2120C>T	c.(2119-2121)gCg>gTg	p.A707V	DACT1_ENST00000395153.3_Missense_Mutation_p.A670V|DACT1_ENST00000556859.1_Missense_Mutation_p.A426V|DACT1_ENST00000541264.2_Missense_Mutation_p.A426V			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	707					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGTACCCCGCGCCTGTGCCT	0.677																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(2008-2010)gCg>gTg		dishevelled-binding antagonist of beta-catenin 1							27.0	31.0	30.0					14																	59113461		2202	4299	6501	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113461C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2120C>T	14.37:g.59113461C>T	ENSP00000337439:p.Ala707Val					DACT1_ENST00000541264.2_Missense_Mutation_p.A426V|DACT1_ENST00000395151.3_Missense_Mutation_p.A426V|DACT1_ENST00000556859.1_Missense_Mutation_p.A426V|DACT1_ENST00000335867.4_Missense_Mutation_p.A707V	p.A670V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2156	+			707					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.2009C>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	2.952	-0.216568	0.06101	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.78	1.38	0.22167	.	0.637842	0.14878	N	0.293151	T	0.36468	0.0968	L	0.41961	1.31	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.09377	0.004;0.002	T	0.22173	-1.0224	10	0.33940	T	0.23	-4.5278	9.1246	0.36807	0.0:0.7656:0.139:0.0955	.	670;707	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	426;426;670;707;426	ENSP00000451598:A426V;ENSP00000378581:A426V;ENSP00000378582:A670V;ENSP00000337439:A707V;ENSP00000442850:A426V	ENSP00000337439:A707V	A	+	2	0	DACT1	58183214	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.296000	0.19083	0.157000	0.19338	-0.223000	0.12442	GCG		0.677	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		13	229	0	0	0	1	0	13	229				
ITGA7	3679	broad.mit.edu	37	12	56082681	56082681	+	Missense_Mutation	SNP	G	G	A	rs17857368		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56082681G>A	ENST00000555728.1	-	23	3065	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	ITGA7_ENST00000257880.7_Missense_Mutation_p.R1013C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R973C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R973C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R963C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R969C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R876C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R969C			Q13683	ITA7_HUMAN	integrin, alpha 7	1013				R -> H (in Ref. 8; AAH50280). {ECO:0000305}.	blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCCGCGCGGTCAAAGCTG	0.587																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3037-3039)Cgc>Tgc		integrin, alpha 7		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	71.0	73.0	72.0		2917,2626,2905	4.6	1.0	12	dbSNP_123	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	973/1142,876/1045,969/1138	56082681	1,13005	2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56082681G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3037C>T	12.37:g.56082681G>A	ENSP00000452387:p.Arg1013Cys					ITGA7_ENST00000394229.2_Missense_Mutation_p.R969C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R963C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R969C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R973C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1013C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R876C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R973C	p.R1013C			Q13683	ITA7_HUMAN			23	3256	-			1013					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3037C>T		.	.	.	.	.	.	.	.	.	.	G	15.11	2.737426	0.49045	0.0	1.16E-4	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.45	4.56	0.56223	.	0.203366	0.42682	D	0.000663	T	0.52613	0.1745	L	0.50333	1.59	0.42430	D	0.992676	D;P;D;D	0.67145	0.959;0.843;0.984;0.996	P;P;P;P	0.51701	0.663;0.462;0.663;0.677	T	0.57365	-0.7824	10	0.62326	D	0.03	.	13.5445	0.61695	0.0:0.0:0.843:0.157	.	876;1013;973;1032	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	C	973;969;963;876;1013;973;969;842;1013	ENSP00000452120:R973C;ENSP00000257879:R969C;ENSP00000343009:R963C;ENSP00000393844:R876C;ENSP00000257880:R1013C;ENSP00000377777:R973C;ENSP00000377776:R969C;ENSP00000452387:R1013C	ENSP00000257879:R969C	R	-	1	0	ITGA7	54368948	1.000000	0.71417	0.992000	0.48379	0.204000	0.24138	3.754000	0.55189	1.311000	0.45024	-0.164000	0.13417	CGC		0.587	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		12	284	0	0	0	1	0	12	284				
SYCP1	6847	broad.mit.edu	37	1	115417138	115417138	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:115417138C>T	ENST00000369522.3	+	9	850	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	SYCP1_ENST00000369518.1_Missense_Mutation_p.R204W	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	204					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.R204W(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAATATGAACGGGAAGAAAC	0.264																																						ENST00000369522.3																		RGS22/SYCP1(2)	1	Substitution - Missense(1)	p.R204W(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(610-612)Cgg>Tgg		synaptonemal complex protein 1							76.0	91.0	86.0					1																	115417138		2200	4292	6492	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115417138C>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.610C>T	1.37:g.115417138C>T	ENSP00000358535:p.Arg204Trp					SYCP1_ENST00000369518.1_Missense_Mutation_p.R204W	p.R204W	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	850	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	204					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.610C>T	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693727	0.68386	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.58060	0.36;0.36;0.36	5.13	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.72894	2.215	0.46954	D	0.99926	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64968	-0.6282	10	0.87932	D	0	-5.1042	9.5872	0.39524	0.2601:0.7399:0.0:0.0	.	204;204	B7ZLS9;Q15431	.;SYCP1_HUMAN	W	204	ENSP00000358535:R204W;ENSP00000410011:R204W;ENSP00000358531:R204W	ENSP00000358531:R204W	R	+	1	2	SYCP1	115218661	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.147000	0.50639	2.564000	0.86499	0.655000	0.94253	CGG		0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		59	671	0	0	0	1	0	59	671				
BCLAF1	9774	broad.mit.edu	37	6	136590607	136590607	+	Silent	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:136590607A>G	ENST00000531224.1	-	9	2439	c.2187T>C	c.(2185-2187)gaT>gaC	p.D729D	BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000527759.1_Silent_p.D727D|BCLAF1_ENST00000527536.1_Silent_p.D729D|BCLAF1_ENST00000530767.1_Silent_p.D556D|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Silent_p.D727D|BCLAF1_ENST00000353331.4_Silent_p.D727D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	729					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTCCTTGTAATCTTTTGGAG	0.363																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2185-2187)gaT>gaC		BCL2-associated transcription factor 1							110.0	105.0	106.0					6																	136590607		2203	4299	6502	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590607A>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2187T>C	6.37:g.136590607A>G						BCLAF1_ENST00000530767.1_Silent_p.D556D|BCLAF1_ENST00000527536.1_Silent_p.D729D|BCLAF1_ENST00000392348.2_Silent_p.D727D|BCLAF1_ENST00000353331.4_Silent_p.D727D|BCLAF1_ENST00000527759.1_Silent_p.D727D|BCLAF1_ENST00000529917.1_5'UTR	p.D729D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2439	-	Colorectal(23;0.24)		729					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.2187T>C	CCDS5177.1																																																																																				0.363	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		7	321	0	0	0	1	0	7	321				
LRP1B	53353	broad.mit.edu	37	2	141128374	141128374	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:141128374C>T	ENST00000389484.3	-	71	11884	c.10913G>A	c.(10912-10914)cGg>cAg	p.R3638Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3638	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTTGCACCGAAACTGATC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10912-10914)cGg>cAg		low density lipoprotein receptor-related protein 1B							183.0	169.0	174.0					2																	141128374		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128374C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10913G>A	2.37:g.141128374C>T	ENSP00000374135:p.Arg3638Gln	TSP Lung(27;0.18)					p.R3638Q	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	71	11884	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3638			LDL-receptor class A 29.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10913G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000256	0.35320	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.41400	1.0	5.12	4.23	0.50019	.	0.218941	0.31335	N	0.007839	T	0.18173	0.0436	N	0.05608	-0.01	0.24759	N	0.992934	B	0.06786	0.001	B	0.04013	0.001	T	0.26087	-1.0113	10	0.02654	T	1	.	9.1573	0.37000	0.0:0.8316:0.0:0.1684	.	3638	Q9NZR2	LRP1B_HUMAN	Q	3638;3576	ENSP00000374135:R3638Q	ENSP00000374135:R3638Q	R	-	2	0	LRP1B	140844844	0.931000	0.31567	1.000000	0.80357	0.996000	0.88848	1.822000	0.39052	1.132000	0.42129	0.491000	0.48974	CGG		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		39	590	0	0	0	1	0	39	590				
OR5M1	390168	broad.mit.edu	37	11	56380401	56380401	+	Missense_Mutation	SNP	C	C	T	rs553800236		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:56380401C>T	ENST00000526538.1	-	1	577	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTTTTGACACGGGTGTCAGA	0.433																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(577-579)cGt>cAt		olfactory receptor, family 5, subfamily M, member 1							56.0	53.0	54.0					11																	56380401		1889	4106	5995	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380401C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.578G>A	11.37:g.56380401C>T	ENSP00000435416:p.Arg193His						p.R193H	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	577	-			193					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.578G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616311	0.00120	.	.	ENSG00000255012	ENST00000526538	T	0.00076	8.76	3.71	-2.03	0.07365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14337	-1.0476	9	0.02654	T	1	-10.5846	7.7176	0.28712	0.0:0.179:0.546:0.2751	.	193	Q8NGP8	OR5M1_HUMAN	H	193	ENSP00000435416:R193H	ENSP00000435416:R193H	R	-	2	0	OR5M1	56136977	0.000000	0.05858	0.020000	0.16555	0.104000	0.19210	-1.808000	0.01732	-0.719000	0.04942	-1.820000	0.00599	CGT		0.433	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		61	230	0	0	0	1	0	61	230				
HDHD1	8226	broad.mit.edu	37	X	7023672	7023672	+	Missense_Mutation	SNP	G	G	A	rs201478475		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:7023672G>A	ENST00000381077.5	-	2	345	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000424830.2_Missense_Mutation_p.A113V|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.A90V	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	90					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TGGCATGAGCGCAGCCGTGGG	0.488													g|||	2	0.000529801	0.0008	0.0	3775	,	,		12592	0.0		0.0	False		,,,				2504	0.001					ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(268-270)gCg>gTg		haloacid dehalogenase-like hydrolase domain containing 1		A	VAL/ALA,VAL/ALA,,VAL/ALA	0,3435		0,0,0,1432,571	53.0	57.0	56.0		338,269,,269	2.1	0.0	X		56	8,6509		0,3,5,2353,1800	yes	missense,missense,intron,missense	HDHD1	NM_001135565.1,NM_001178135.1,NM_001178136.1,NM_012080.4	64,64,,64	0,3,5,3785,2371	AA,AG,A,GG,G		0.1228,0.0,0.0804	benign,benign,,benign	113/252,90/209,,90/229	7023672	8,9944	2003	4161	6164	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:7023672G>A	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.269C>T	X.37:g.7023672G>A	ENSP00000370467:p.Ala90Val					HDHD1_ENST00000424830.2_Missense_Mutation_p.A113V|HDHD1_ENST00000540122.1_Missense_Mutation_p.A90V|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Intron	p.A90V	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			2	345	-			90					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.269C>T	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	g	11.89	1.773486	0.31411	0.0	0.001228	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	4.01	2.1	0.27182	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.713952	0.13959	N	0.350986	T	0.02727	0.0082	N	0.17379	0.485	0.09310	N	1	D;B;P;B	0.59767	0.986;0.076;0.59;0.166	B;B;B;B	0.30179	0.112;0.041;0.022;0.009	T	0.47761	-0.9092	10	0.36615	T	0.2	-41.8634	7.339	0.26625	0.0:0.1602:0.506:0.3338	.	90;113;90;90	Q08623-3;E9PAV8;E7EVH9;Q08623	.;.;.;HDHD1_HUMAN	V	90;106;113;90;90	ENSP00000370467:A90V;ENSP00000396452:A113V;ENSP00000441208:A90V;ENSP00000430995:A90V	ENSP00000370467:A90V	A	-	2	0	HDHD1	7033672	0.000000	0.05858	0.000000	0.03702	0.629000	0.37895	-0.171000	0.09883	0.067000	0.16545	0.597000	0.82753	GCG		0.488	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		3	62	0	0	0	1	0	3	62				
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C	rs371763448	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:1265999T>C	ENST00000529681.1	+	31	7947	c.7889T>C	c.(7888-7890)cTt>cCt	p.L2630P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.L2633P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	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.L2630P(1)|p.L2609P(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)		GCACGCACGCTTCCAGTGTGG	0.637													N|||	3	0.000599042	0.0	0.0014	5008	,	,		18926	0.001		0.001	False		,,,				2504	0.0					ENST00000447027.1																			2	Substitution - Missense(2)	p.L2630P(1)|p.L2609P(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7897-7899)cTt>cCt		mucin 5B, oligomeric mucus/gel-forming							149.0	179.0	169.0					11																	1265999		2124	4236	6360	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265999T>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.7889T>C	11.37:g.1265999T>C	ENSP00000436812:p.Leu2630Pro					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P	p.L2633P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7956	+		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)	2630	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7898T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	2.858	-0.236815	0.05944	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.24350	1.86;2.05	1.88	-3.77	0.04346	.	.	.	.	.	T	0.15262	0.0368	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.29822	-0.9999	9	0.87932	D	0	.	3.6655	0.08254	0.21:0.3112:0.0:0.4788	.	3268;2633	A7Y9J9;E9PBJ0	.;.	P	2630;2633;2602;2645;171	ENSP00000436812:L2630P;ENSP00000415793:L2633P	ENSP00000343037:L2602P	L	+	2	0	MUC5B	1222575	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.943000	0.03917	-0.876000	0.04017	0.172000	0.16884	CTT		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	429	0	0	0	1	0	6	429				
SAFB	6294	broad.mit.edu	37	19	5654163	5654163	+	Missense_Mutation	SNP	G	G	A	rs11542075|rs34855450		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:5654163G>A	ENST00000292123.5	+	12	1725	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SAFB_ENST00000588852.1_Missense_Mutation_p.D540N|SAFB_ENST00000592224.1_Missense_Mutation_p.D540N|SAFB_ENST00000433404.1_Missense_Mutation_p.D370N|SAFB_ENST00000454510.1_Missense_Mutation_p.D471N|SAFB_ENST00000538656.1_Missense_Mutation_p.D383N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	540	Interaction with POLR2A.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAAGGACCAAGATGATCAGAA	0.463																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(1618-1620)Gat>Aat		scaffold attachment factor B							113.0	105.0	107.0					19																	5654163		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5654163G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1618G>A	19.37:g.5654163G>A	ENSP00000292123:p.Asp540Asn					SAFB_ENST00000592224.1_Missense_Mutation_p.D540N|SAFB_ENST00000454510.1_Missense_Mutation_p.D471N|SAFB_ENST00000433404.1_Missense_Mutation_p.D370N|SAFB_ENST00000588852.1_Missense_Mutation_p.D540N|SAFB_ENST00000538656.1_Missense_Mutation_p.D383N	p.D540N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	12	1725	+			540			Interaction with POLR2A.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.1618G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656306	0.67586	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.12569	2.72;2.86;2.69;2.67	5.34	4.29	0.51040	.	0.103415	0.42682	D	0.000680	T	0.16128	0.0388	L	0.57536	1.79	0.44036	D	0.996762	B;P;B;B;B;B;B	0.37824	0.321;0.609;0.449;0.11;0.11;0.11;0.11	B;B;B;B;B;B;B	0.36885	0.101;0.235;0.205;0.074;0.119;0.074;0.119	T	0.01909	-1.1249	10	0.59425	D	0.04	-27.4843	13.4452	0.61136	0.0766:0.0:0.9234:0.0	.	339;383;471;540;540;540;540	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	N	471;435;370;540;383	ENSP00000415895:D471N;ENSP00000404545:D370N;ENSP00000292123:D540N;ENSP00000438880:D383N	ENSP00000292123:D540N	D	+	1	0	SAFB	5605163	0.966000	0.33281	0.886000	0.34754	0.994000	0.84299	3.458000	0.53014	2.654000	0.90174	0.563000	0.77884	GAT		0.463	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			31	286	0	0	0	1	0	31	286				
DCP2	167227	broad.mit.edu	37	5	112337346	112337346	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:112337346G>A	ENST00000389063.2	+	7	979	c.781G>A	c.(781-783)Gct>Act	p.A261T	DCP2_ENST00000515408.1_Missense_Mutation_p.A261T|DCP2_ENST00000543319.1_Missense_Mutation_p.A50T	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	261					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TAGCACGCCGGCTAAACCCAC	0.373																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(781-783)Gct>Act		decapping mRNA 2							132.0	143.0	139.0					5																	112337346		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112337346G>A	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.781G>A	5.37:g.112337346G>A	ENSP00000373715:p.Ala261Thr					DCP2_ENST00000543319.1_Missense_Mutation_p.A50T|DCP2_ENST00000515408.1_Missense_Mutation_p.A261T	p.A261T	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	7	979	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	261					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.781G>A	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.59|15.59	2.879558|2.879558	0.51801|0.51801	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.44881|.	0.92;0.91|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.344652|.	0.32736|.	N|.	0.005702|.	T|T	0.42245|0.42245	0.1194|0.1194	N|N	0.19112|0.19112	0.55|0.55	0.36717|0.36717	D|D	0.88097|0.88097	B;B|.	0.23442|.	0.082;0.085|.	B;B|.	0.25140|.	0.058;0.026|.	T|T	0.45948|0.45948	-0.9226|-0.9226	10|5	0.22109|.	T|.	0.4|.	-9.3311|-9.3311	9.7626|9.7626	0.40541|0.40541	0.0:0.1224:0.6305:0.2471|0.0:0.1224:0.6305:0.2471	.|.	261;261|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	T|D	261;261;50|242	ENSP00000425770:A261T;ENSP00000373715:A261T|.	ENSP00000373715:A261T|.	A|G	+|+	1|2	0|0	DCP2|DCP2	112365245|112365245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.265000|1.265000	0.33027|0.33027	2.727000|2.727000	0.93392|0.93392	0.643000|0.643000	0.83706|0.83706	GCT|GGC		0.373	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		7	774	0	0	0	1	0	7	774				
FSTL4	23105	broad.mit.edu	37	5	132559896	132559896	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:132559896A>G	ENST00000265342.7	-	11	1574	c.1325T>C	c.(1324-1326)cTg>cCg	p.L442P	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA|FSTL4_ENST00000507112.1_Intron	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	442						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCGCCACAGGATGTTTGC	0.483																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1324-1326)cTg>cCg		follistatin-like 4							163.0	126.0	138.0					5																	132559896		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132559896A>G	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1325T>C	5.37:g.132559896A>G	ENSP00000265342:p.Leu442Pro					CTB-49A3.2_ENST00000502776.1_RNA|FSTL4_ENST00000507112.1_Intron|CTB-49A3.2_ENST00000509051.1_RNA	p.L442P	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1574	-		all_cancers(142;0.244)	442					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.1325T>C	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623789	0.87460	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.62498	0.02	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76018	0.3929	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76313	-0.3005	10	0.49607	T	0.09	-21.8211	15.5635	0.76269	1.0:0.0:0.0:0.0	.	442	Q6MZW2	FSTL4_HUMAN	P	442;273	ENSP00000265342:L442P	ENSP00000265342:L442P	L	-	2	0	FSTL4	132587795	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.800000	0.91900	2.326000	0.78906	0.533000	0.62120	CTG		0.483	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		10	128	0	0	0	1	0	10	128				
LMO7	4008	broad.mit.edu	37	13	76379654	76379654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:76379654G>A	ENST00000321797.8	+	7	976	c.255G>A	c.(253-255)tgG>tgA	p.W85*	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Nonsense_Mutation_p.W370*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.W370*|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Nonsense_Mutation_p.W85*			Q8WWI1	LMO7_HUMAN	LIM domain 7	370	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAGAACTGGCCAACTGTAC	0.408																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1108-1110)tgG>tgA		LIM domain 7							138.0	127.0	130.0					13																	76379654		1568	3582	5150	SO:0001587	stop_gained	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379654G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.255G>A	13.37:g.76379654G>A	ENSP00000317802:p.Trp85*					LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Nonsense_Mutation_p.W85*|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Nonsense_Mutation_p.W85*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.W370*	p.W370*			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2370	+		Breast(118;0.0992)	370					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	ENST00000321797.8	37	c.1110G>A		.	.	.	.	.	.	.	.	.	.	G	47	13.323881	0.99734	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	.	.	.	5.93	5.08	0.68730	.	0.736359	0.13017	N	0.420363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-3.7943	7.9747	0.30149	0.1313:0.0:0.7356:0.1331	.	.	.	.	X	370;370;85;85;85	.	ENSP00000317802:W85X	W	+	3	0	LMO7	75277655	0.959000	0.32827	0.897000	0.35233	0.811000	0.45836	1.639000	0.37176	1.499000	0.48617	0.563000	0.77884	TGG		0.408	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	422	0	0	0	1	0	5	422				
ESPNL	339768	broad.mit.edu	37	2	239037368	239037368	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:239037368G>A	ENST00000343063.3	+	8	1499	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	ESPNL_ENST00000409169.1_Silent_p.A368A|ESPNL_ENST00000409506.1_Silent_p.A44A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	412										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGGCGCTGGCGGGGGACACCT	0.701																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(1234-1236)gcG>gcA		espin-like							13.0	16.0	15.0					2																	239037368		2183	4282	6465	SO:0001819	synonymous_variant	339768							g.chr2:239037368G>A	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1236G>A	2.37:g.239037368G>A						ESPNL_ENST00000409506.1_Silent_p.A44A|ESPNL_ENST00000409169.1_Silent_p.A368A	p.A412A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	8	1499	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	412					Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	c.1236G>A	CCDS2525.1																																																																																				0.701	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		9	41	0	0	0	1	0	9	41				
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2227-2229)Tct>Gct		filaggrin family member 2							292.0	285.0	288.0					1																	152328035		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328035A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2227T>G	1.37:g.152328035A>C	ENSP00000373370:p.Ser743Ala					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S743A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		743			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2227T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.348	1.064785	0.20067	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.64	4.64	0.57946	.	.	.	.	.	T	0.20251	0.0487	M	0.69185	2.1	0.26074	N	0.981184	D	0.61080	0.989	P	0.57679	0.825	T	0.08932	-1.0698	9	0.14252	T	0.57	-0.8615	12.053	0.53518	1.0:0.0:0.0:0.0	.	743	Q5D862	FILA2_HUMAN	A	743	ENSP00000373370:S743A	ENSP00000373370:S743A	S	-	1	0	FLG2	150594659	0.002000	0.14202	0.081000	0.20488	0.509000	0.34042	1.013000	0.29937	1.959000	0.56917	0.496000	0.49642	TCT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1708	0	0	0	1	0	9	1708				
FAM107A	11170	broad.mit.edu	37	3	58555463	58555463	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:58555463C>T	ENST00000394481.1	-	3	683	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	FAM107A_ENST00000474531.1_Missense_Mutation_p.R73Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.R42Q|FAM107A_ENST00000447756.2_Missense_Mutation_p.R70Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R42Q	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	42					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGTGACTCCGAGAGGCCTT	0.632																																						ENST00000394481.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(124-126)cGg>cAg		family with sequence similarity 107, member A							63.0	66.0	65.0					3																	58555463		2203	4300	6503	SO:0001583	missense	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58555463C>T	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.125G>A	3.37:g.58555463C>T	ENSP00000377991:p.Arg42Gln					FAM107A_ENST00000447756.2_Missense_Mutation_p.R70Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R42Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.R42Q|FAM107A_ENST00000474531.1_Missense_Mutation_p.R73Q	p.R42Q	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)	3	683	-			42					B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	37	c.125G>A	CCDS2892.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065072	0.76187	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	4.48	3.59	0.41128	.	0.241877	0.39274	N	0.001412	T	0.44582	0.1300	M	0.73598	2.24	0.31818	N	0.626326	P;D;P;P	0.55800	0.727;0.973;0.898;0.898	B;P;B;B	0.47346	0.259;0.544;0.284;0.284	T	0.55515	-0.8129	10	0.36615	T	0.2	-30.2881	7.6386	0.28280	0.0:0.7936:0.0:0.2064	.	70;42;73;42	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	Q	42;42;42;73;70;42	ENSP00000354270:R42Q;ENSP00000377991:R42Q;ENSP00000419529:R42Q;ENSP00000419124:R73Q;ENSP00000400858:R70Q;ENSP00000418038:R42Q	ENSP00000354270:R42Q	R	-	2	0	FAM107A	58530503	0.001000	0.12720	0.984000	0.44739	0.807000	0.45602	0.874000	0.28065	2.217000	0.71921	0.655000	0.94253	CGG		0.632	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		28	292	0	0	0	1	0	28	292				
CD44	960	broad.mit.edu	37	11	35218362	35218362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:35218362C>A	ENST00000428726.2	+	6	860	c.737C>A	c.(736-738)tCa>tAa	p.S246*	CD44_ENST00000433892.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.S246*|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000449691.2_Nonsense_Mutation_p.S246*|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.S246*|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	246	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	GATTGGTTTTCATGGTTGTTT	0.383																																						ENST00000428726.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(736-738)tCa>tAa		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						120.0	104.0	109.0					11																	35218362		2202	4298	6500	SO:0001587	stop_gained	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35218362C>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.737C>A	11.37:g.35218362C>A	ENSP00000398632:p.Ser246*					CD44_ENST00000526669.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.S246*|CD44_ENST00000449691.2_Nonsense_Mutation_p.S246*|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.S246*|CD44_ENST00000360158.4_Intron	p.S246*	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		6	860	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	246			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Nonsense_Mutation	SNP	ENST00000428726.2	37	c.737C>A	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.188320|4.188320	0.78789|0.78789	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000525685|ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726	.|.	.|.	.|.	4.74|4.74	2.86|2.86	0.33363|0.33363	.|.	.|0.325033	.|0.22362	.|N	.|0.061071	T|.	0.30510|.	0.0767|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08411|.	-1.0723|.	4|.	.|0.05959	.|T	.|0.93	-0.231|-0.231	7.7276|7.7276	0.28769|0.28769	0.0:0.8031:0.0:0.1969|0.0:0.8031:0.0:0.1969	.|.	.|.	.|.	.|.	N|X	114|246	.|.	.|ENSP00000398632:S246X	H|S	+|+	1|2	0|0	CD44|CD44	35174938|35174938	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.137000|0.137000	0.21094|0.21094	2.006000|2.006000	0.40874|0.40874	0.518000|0.518000	0.28383|0.28383	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.383	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		5	274	1	0	0.014758	1	0.01482	5	274				
MAGEB2	4113	broad.mit.edu	37	X	30236753	30236753	+	Missense_Mutation	SNP	G	G	A	rs199746320		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:30236753G>A	ENST00000378988.4	+	2	157	c.56G>A	c.(55-57)cGa>cAa	p.R19Q		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	19										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CGCAAGGCCCGAGATGAGACC	0.552													G|||	1	0.000264901	0.0008	0.0	3775	,	,		13433	0.0		0.0	False		,,,				2504	0.0					ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(55-57)cGa>cAa		melanoma antigen family B, 2							37.0	36.0	37.0					X																	30236753		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236753G>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.56G>A	X.37:g.30236753G>A	ENSP00000368273:p.Arg19Gln						p.R19Q	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	157	+			19					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.56G>A	CCDS14219.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.12	1.263218	0.23051	.	.	ENSG00000099399	ENST00000378988	T	0.04015	3.73	3.43	-0.481	0.12082	Melanoma associated antigen, MAGE, N-terminal (1);	1.269310	0.05610	N	0.577923	T	0.03348	0.0097	L	0.38733	1.17	0.09310	N	1	P	0.46277	0.875	B	0.33960	0.173	T	0.45906	-0.9229	10	0.14656	T	0.56	.	6.2626	0.20910	0.528:0.0:0.472:0.0	.	19	O15479	MAGB2_HUMAN	Q	19	ENSP00000368273:R19Q	ENSP00000368273:R19Q	R	+	2	0	MAGEB2	30146674	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.141000	0.16076	-0.251000	0.09542	0.513000	0.50165	CGA		0.552	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		4	64	0	0	0	1	0	4	64				
SFTPA2	729238	broad.mit.edu	37	10	81318681	81318681	+	Missense_Mutation	SNP	G	G	A	rs150273659	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:81318681G>A	ENST00000372325.2	-	4	337	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	85	Collagen-like.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTCTCTCCACGCTCTCCAGGG	0.627									Pulmonary Fibrosis, Idiopathic				G|||	24	0.00479233	0.0045	0.0	5008	,	,		17841	0.0159		0.0	False		,,,				2504	0.002					ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(253-255)Cgt>Tgt		surfactant protein A2		G	CYS/ARG	33,4373		0,33,2170	108.0	121.0	117.0		253	2.9	1.0	10	dbSNP_134	117	10,8582		0,10,4286	no	missense	SFTPA2	NM_001098668.2	180	0,43,6456	AA,AG,GG		0.1164,0.749,0.3308	benign	85/249	81318681	43,12955	2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81318681G>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.253C>T	10.37:g.81318681G>A	ENSP00000361400:p.Arg85Cys					SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		4	337	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		85			Collagen-like.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.253C>T	CCDS41540.1	8	0.003663003663003663	1	0.0020325203252032522	0	0.0	7	0.012237762237762238	0	0.0	N	4.066	0.009984	0.07912	0.00749	0.001164	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	D;D;D	0.94417	-3.42;-3.42;-3.42	2.87	2.87	0.33458	.	0.455646	0.20973	N	0.082360	D	0.89757	0.6807	M	0.71036	2.16	0.26410	N	0.976274	B	0.09022	0.002	B	0.04013	0.001	D	0.83885	0.0281	10	0.40728	T	0.16	-0.1951	9.5435	0.39266	0.0:0.0:1.0:0.0	.	85	E3VLC8	.	C	85;51;85;85	ENSP00000361400:R85C;ENSP00000361402:R85C;ENSP00000397375:R85C	ENSP00000361400:R85C	R	-	1	0	SFTPA2	80988687	0.000000	0.05858	0.975000	0.42487	0.012000	0.07955	-0.048000	0.11944	1.329000	0.45376	0.423000	0.28283	CGT		0.627	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		9	697	0	0	0	1	0	9	697				
GBX2	2637	broad.mit.edu	37	2	237074778	237074778	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:237074778C>T	ENST00000306318.4	-	2	1223	c.826G>A	c.(826-828)Gag>Aag	p.E276K	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'UTR|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	276					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TGCGAGCGCTCGGTCAAGGAG	0.602																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(826-828)Gag>Aag		gastrulation brain homeobox 2							75.0	79.0	78.0					2																	237074778		2203	4300	6503	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237074778C>T	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.826G>A	2.37:g.237074778C>T	ENSP00000302251:p.Glu276Lys					GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	p.E276K	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	1223	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	276					B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.826G>A	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081431	0.94050	.	.	ENSG00000168505	ENST00000306318	D	0.96300	-3.97	4.66	4.66	0.58398	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96285	0.9209	10	0.36615	T	0.2	-15.9796	17.5569	0.87894	0.0:1.0:0.0:0.0	.	276	P52951	GBX2_HUMAN	K	276	ENSP00000302251:E276K	ENSP00000302251:E276K	E	-	1	0	GBX2	236739517	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.990000	0.70595	2.133000	0.65898	0.561000	0.74099	GAG		0.602	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		10	507	0	0	0	1	0	10	507				
LAMA1	284217	broad.mit.edu	37	18	7032156	7032156	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:7032156T>C	ENST00000389658.3	-	16	2276	c.2183A>G	c.(2182-2184)tAc>tGc	p.Y728C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	728	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCCACGCGGTAATAGCCAGA	0.478																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2182-2184)tAc>tGc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89.0	71.0	77.0					18																	7032156		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7032156T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2183A>G	18.37:g.7032156T>C	ENSP00000374309:p.Tyr728Cys						p.Y728C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			16	2276	-		Colorectal(10;0.172)	728			Laminin EGF-like 5; second part.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2183A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.408948	0.62399	.	.	ENSG00000101680	ENST00000389658	T	0.64260	-0.09	5.51	5.51	0.81932	EGF-like, laminin (2);	0.084479	0.48767	D	0.000165	T	0.82217	0.4989	M	0.89715	3.055	0.49130	D	0.999755	D	0.89917	1.0	D	0.87578	0.998	D	0.85319	0.1083	10	0.54805	T	0.06	.	14.1917	0.65641	0.0:0.0:0.0:1.0	.	728	P25391	LAMA1_HUMAN	C	728	ENSP00000374309:Y728C	ENSP00000374309:Y728C	Y	-	2	0	LAMA1	7022156	1.000000	0.71417	0.990000	0.47175	0.741000	0.42261	3.955000	0.56715	2.080000	0.62538	0.533000	0.62120	TAC		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		10	144	0	0	0	1	0	10	144				
CT45A4	441520	broad.mit.edu	37	X	134932820	134932820	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:134932820G>T	ENST00000487941.2	-	2	253	c.164C>A	c.(163-165)gCa>gAa	p.A55E	CT45A4_ENST00000434966.2_Missense_Mutation_p.A55E|CT45A4_ENST00000494421.1_Missense_Mutation_p.A55E|CT45A4_ENST00000420087.2_Intron			Q8N7B7	CT454_HUMAN	cancer/testis antigen family 45, member A4	55																	CTTACTCTTTGCTTTGGACAT	0.507																																						ENST00000434966.2																			0											c.(163-165)gCa>gAa		cancer/testis antigen family 45, member A4							37.0	60.0	52.0					X																	134932820		1089	2024	3113	SO:0001583	missense	441520							g.chrX:134932820G>T	AY743712		Xq26.3 not on reference assembly	2014-07-17				ENSG00000269096			33269	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-4"""	300795				15905330	Standard	XM_006726858		Approved	CT45-4, CT45.4	uc004ezd.3	Q8N7B7		ENST00000487941.2:c.164C>A	X.37:g.134932820G>T	ENSP00000427342:p.Ala55Glu					CT45A4_ENST00000494421.1_Missense_Mutation_p.A55E|CT45A4_ENST00000420087.2_Intron	p.A55E	NM_001017436.1	NP_001017436.1	Q8N7B7	CT454_HUMAN			2	408	-			55						Missense_Mutation	SNP	ENST00000487941.2	37	c.164C>A	CCDS35405.1	.	.	.	.	.	.	.	.	.	.	T	1.316	-0.600770	0.03744	.	.	ENSG00000228836	ENST00000434966;ENST00000494421	T;T	0.42900	0.96;0.96	1.93	-1.32	0.09201	.	0.194202	0.42964	N	0.000621	T	0.13030	0.0316	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	9	0.02654	T	1	.	3.6839	0.08320	0.0:0.464:0.2384:0.2977	.	55	Q8N7B7	CT454_HUMAN	E	55	ENSP00000405261:A55E;ENSP00000425805:A55E	ENSP00000405261:A55E	A	-	2	0	CT45A4	134760486	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.702000	0.05069	-0.935000	0.03728	-0.963000	0.02626	GCA		0.507	CT45A4-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000472588.1	NM_001017436		5	488	1	0	0.00116845	1	0.00118833	5	488				
CSNK1G3	1456	broad.mit.edu	37	5	122923840	122923840	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:122923840G>A	ENST00000361991.2	+	6	782	c.752G>A	c.(751-753)gGc>gAc	p.G251D	CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G251D|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.G138D|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G176D|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G251D			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CCTTGGCAAGGCTTAAAGGTA	0.284																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(751-753)gGc>gAc		casein kinase 1, gamma 3							133.0	135.0	134.0					5																	122923840		2203	4300	6503	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122923840G>A	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.752G>A	5.37:g.122923840G>A	ENSP00000354942:p.Gly251Asp					CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G251D|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.G138D|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G176D|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G251D	p.G251D	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	7	1471	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	251			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.752G>A	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363004	0.82353	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.15	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.37433	0.1003	M	0.86097	2.795	0.80722	D	1	D;D;D;D;D;D	0.71674	0.994;0.994;0.994;0.992;0.998;0.997	D;D;D;D;D;D	0.80764	0.976;0.99;0.976;0.945;0.994;0.976	T	0.45644	-0.9247	10	0.87932	D	0	.	15.5399	0.76035	0.0:0.0:0.8604:0.1396	.	176;251;138;251;251;251	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	D	251;251;251;138;176;251;251;251;251	ENSP00000378807:G251D;ENSP00000378806:G251D;ENSP00000334735:G251D;ENSP00000421385:G138D;ENSP00000421998:G176D;ENSP00000429412:G251D;ENSP00000423838:G251D;ENSP00000354942:G251D;ENSP00000353904:G251D	ENSP00000334735:G251D	G	+	2	0	CSNK1G3	122951739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.626000	0.83164	1.468000	0.48064	0.650000	0.86243	GGC		0.284	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		42	374	0	0	0	1	0	42	374				
TMEM248	55069	broad.mit.edu	37	7	66410199	66410199	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:66410199C>T	ENST00000341567.4	+	3	651	c.396C>T	c.(394-396)aaC>aaT	p.N132N		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	132						integral component of membrane (GO:0016021)											ATTCCCGCAACGTCACCCATC	0.547																																						ENST00000341567.4																			0											c.(394-396)aaC>aaT		transmembrane protein 248							105.0	103.0	104.0					7																	66410199		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66410199C>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.396C>T	7.37:g.66410199C>T							p.N132N	NM_017994.4	NP_060464.1					3	651	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.396C>T	CCDS5536.1																																																																																				0.547	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		26	494	0	0	0	1	0	26	494				
PRDM9	56979	broad.mit.edu	37	5	23526988	23526988	+	Silent	SNP	T	T	A	rs199546146	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:23526988T>A	ENST00000296682.3	+	11	1973	c.1791T>A	c.(1789-1791)acT>acA	p.T597T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	597					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)			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						TCCTCCTCACTCACCAGAGGA	0.592										HNSCC(3;0.000094)																												ENST00000296682.3																			0				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						c.(1789-1791)acT>acA		PR domain containing 9							36.0	40.0	39.0					5																	23526988		2096	4209	6305	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.chr5:23526988T>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.1791T>A	5.37:g.23526988T>A		HNSCC(3;0.000094)					p.T597T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1973	+			597					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1791T>A	CCDS43307.1																																																																																				0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	380	0	0	0	1	0	5	380				
TRIM33	51592	broad.mit.edu	37	1	114968220	114968220	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:114968220G>T	ENST00000358465.2	-	9	1629	c.1546C>A	c.(1546-1548)Ctc>Atc	p.L516I	TRIM33_ENST00000450349.2_Missense_Mutation_p.L124I|TRIM33_ENST00000369543.2_Missense_Mutation_p.L516I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	516					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTGCTGGAGTCGAAGCTGT	0.458			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1546-1548)Ctc>Atc		tripartite motif containing 33							356.0	312.0	327.0					1																	114968220		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968220G>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1546C>A	1.37:g.114968220G>T	ENSP00000351250:p.Leu516Ile					TRIM33_ENST00000369543.2_Missense_Mutation_p.L516I|TRIM33_ENST00000450349.2_Missense_Mutation_p.L124I	p.L516I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1629	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	516					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1546C>A	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.521938|4.521938	0.85600|0.85600	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.77358	.|-0.89;-0.8;-1.09	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82861|0.82861	0.5129|0.5129	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;B	.|0.67145	.|0.982;0.982;0.996;0.434	.|D;D;D;B	.|0.75484	.|0.952;0.952;0.986;0.417	T|T	0.82466|0.82466	-0.0443|-0.0443	5|10	.|0.48119	.|T	.|0.1	-8.1052|-8.1052	18.9585|18.9585	0.92670|0.92670	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|124;124;516;516	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	E|I	252|516;516;124	.|ENSP00000351250:L516I;ENSP00000358556:L516I;ENSP00000412077:L124I	.|ENSP00000351250:L516I	D|L	-|-	3|1	2|0	TRIM33|TRIM33	114769743|114769743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.114000|7.114000	0.77103|0.77103	2.554000|2.554000	0.86153|0.86153	0.650000|0.650000	0.86243|0.86243	GAC|CTC		0.458	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		106	926	1	0	2.33925e-33	1	2.55288e-33	106	926				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	194	0	0	0	1	0	5	194				
MYO18B	84700	broad.mit.edu	37	22	26165019	26165019	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:26165019G>A	ENST00000407587.2	+	4	1305	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R379Q|MYO18B_ENST00000335473.7_Missense_Mutation_p.R379Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	379			R -> Q (in a lung small cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:12209013}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGTGAGCTTCGGAGCACGACT	0.577																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1135-1137)cGg>cAg		myosin XVIIIB							37.0	41.0	40.0					22																	26165019		2091	4217	6308	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26165019G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1136G>A	22.37:g.26165019G>A	ENSP00000386096:p.Arg379Gln					MYO18B_ENST00000536101.1_Missense_Mutation_p.R379Q|MYO18B_ENST00000407587.2_Missense_Mutation_p.R379Q	p.R379Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1386	+			379		R -> Q (in a lung small cell carcinoma sample; somatic mutation).			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1136G>A		.	.	.	.	.	.	.	.	.	.	g	0.011	-1.725392	0.00694	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.85955	-2.03;-2.03;-2.05	3.61	-7.22	0.01485	.	1.993940	0.02842	N	0.128040	T	0.58736	0.2143	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.57406	-0.7817	10	0.22109	T	0.4	.	0.8732	0.01218	0.2243:0.3074:0.2432:0.2251	.	379;379;379	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	Q	379	ENSP00000441229:R379Q;ENSP00000334563:R379Q;ENSP00000386096:R379Q	ENSP00000334563:R379Q	R	+	2	0	MYO18B	24495019	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.457000	0.00231	-2.713000	0.00392	-2.582000	0.00168	CGG		0.577	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		11	70	0	0	0	1	0	11	70				
SLC8A2	6543	broad.mit.edu	37	19	47969356	47969356	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:47969356G>A	ENST00000236877.6	-	2	700	c.305C>T	c.(304-306)tCa>tTa	p.S102L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	102					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTTCTCTTTTGACGTGATGAC	0.577																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(304-306)tCa>tTa		solute carrier family 8 (sodium/calcium exchanger), member 2							139.0	89.0	106.0					19																	47969356		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969356G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.305C>T	19.37:g.47969356G>A	ENSP00000236877:p.Ser102Leu					SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	p.S102L	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	700	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	102					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.305C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048442	0.75846	.	.	ENSG00000118160	ENST00000236877	T	0.64438	-0.1	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90331	0.4352	10	0.87932	D	0	.	15.6004	0.76620	0.0:0.0:1.0:0.0	.	102	Q9UPR5	NAC2_HUMAN	L	102	ENSP00000236877:S102L	ENSP00000236877:S102L	S	-	2	0	SLC8A2	52661168	1.000000	0.71417	0.828000	0.32881	0.520000	0.34377	9.587000	0.98229	2.210000	0.71456	0.462000	0.41574	TCA		0.577	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			30	269	0	0	0	1	0	30	269				
HLA-DQB2	3120	broad.mit.edu	37	6	32726818	32726818	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32726818G>C	ENST00000437316.2	-	3	518	c.455C>G	c.(454-456)gCc>gGc	p.A152G	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.A152G|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152G			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	156	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TTTGATCTGGGCTGGATAGAA	0.567																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(454-456)gCc>gGc		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32726818G>C	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.455C>G	6.37:g.32726818G>C	ENSP00000396330:p.Ala152Gly					HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152G|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A152G	p.A152G			Q5SR06	Q5SR06_HUMAN			3	516	-			152					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.455C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.027|0.027	-1.364444|-1.364444	0.01235|0.01235	.|.	.|.	ENSG00000232629|ENSG00000232629	ENST00000437316;ENST00000435145;ENST00000411527|ENST00000427449	T;T;T|.	0.02890|.	4.12;4.12;4.12|.	3.43|3.43	0.273|0.273	0.15650|0.15650	.|.	0.976288|.	0.08313|.	N|.	0.965027|.	T|T	0.06325|0.06325	0.0163|0.0163	N|N	0.04116|0.04116	-0.275|-0.275	0.20975|0.20975	N|N	0.999813|0.999813	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.40627|0.40627	-0.9553|-0.9553	10|5	0.02654|.	T|.	1|.	.|.	13.3769|13.3769	0.60743|0.60743	0.0:0.3088:0.6912:0.0|0.0:0.3088:0.6912:0.0	rs34554556|rs34554556	152;152|.	A2ADX3;Q5SR06|.	.;.|.	G|A	152|151	ENSP00000396330:A152G;ENSP00000410512:A152G;ENSP00000390431:A152G|.	ENSP00000390431:A152G|.	A|P	-|-	2|1	0|0	HLA-DQB2|HLA-DQB2	32834796|32834796	0.000000|0.000000	0.05858|0.05858	0.964000|0.964000	0.40570|0.40570	0.704000|0.704000	0.40688|0.40688	-0.120000|-0.120000	0.10660|0.10660	-0.073000|-0.073000	0.12842|0.12842	-0.339000|-0.339000	0.08088|0.08088	GCC|CCC		0.567	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			6	190	0	0	0	1	0	6	190				
RALGAPA2	57186	broad.mit.edu	37	20	20563724	20563724	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:20563724G>T	ENST00000202677.7	-	20	2684	c.2677C>A	c.(2677-2679)Ctg>Atg	p.L893M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	893					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGGGACTCAGTTGTAACCAA	0.468																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(2677-2679)Ctg>Atg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							82.0	80.0	81.0					20																	20563724		1953	4159	6112	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20563724G>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2677C>A	20.37:g.20563724G>T	ENSP00000202677:p.Leu893Met						p.L893M	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			20	2819	-			893					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.2677C>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.691060|2.691060	0.48097|0.48097	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.70164|.	-0.46|.	6.07|6.07	4.13|4.13	0.48395|0.48395	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.67135|0.67135	0.2861|0.2861	M|M	0.76328|0.76328	2.33|2.33	0.36785|0.36785	D|D	0.884564|0.884564	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.71184|.	0.972;0.931|.	T|T	0.73257|0.73257	-0.4040|-0.4040	10|5	0.40728|.	T|.	0.16|.	.|.	10.5141|10.5141	0.44879|0.44879	0.2044:0.0:0.7956:0.0|0.2044:0.0:0.7956:0.0	.|.	731;893|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	M|K	893|709	ENSP00000202677:L893M|.	ENSP00000202677:L893M|.	L|N	-|-	1|3	2|2	RALGAPA2|RALGAPA2	20511724|20511724	0.961000|0.961000	0.32948|0.32948	0.992000|0.992000	0.48379|0.48379	0.608000|0.608000	0.37181|0.37181	1.380000|1.380000	0.34351|0.34351	1.581000|1.581000	0.49865|0.49865	0.655000|0.655000	0.94253|0.94253	CTG|AAC		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		7	251	1	0	5.4927e-09	1	5.78307e-09	7	251				
CBLB	868	broad.mit.edu	37	3	105456084	105456084	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:105456084C>T	ENST00000264122.4	-	8	1323	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	CBLB_ENST00000394027.3_Silent_p.G356G|CBLB_ENST00000403724.1_Silent_p.G334G|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.G334G	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	334	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TATAACTCCTCCCATCAGGAT	0.264			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1000-1002)ggG>ggA		Cbl proto-oncogene B, E3 ubiquitin protein ligase							95.0	97.0	96.0					3																	105456084		2201	4282	6483	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105456084C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1002G>A	3.37:g.105456084C>T						CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.G334G|CBLB_ENST00000394027.3_Silent_p.G356G|CBLB_ENST00000403724.1_Silent_p.G334G	p.G334G	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			8	1323	-			334			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.1002G>A	CCDS2948.1																																																																																				0.264	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		39	775	0	0	0	1	0	39	775				
ADARB2	105	broad.mit.edu	37	10	1406022	1406022	+	Missense_Mutation	SNP	G	G	A	rs368485422		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:1406022G>A	ENST00000381312.1	-	3	603	c.278C>T	c.(277-279)gCg>gTg	p.A93V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	93					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		cgcgccgggcgcgccgccccg	0.726																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(277-279)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)			VAL/ALA	0,4140		0,0,2070	6.0	7.0	7.0		278	2.8	0.0	10		7	1,8301		0,1,4150	no	missense	ADARB2	NM_018702.3	64	0,1,6220	AA,AG,GG		0.012,0.0,0.0080	benign	93/740	1406022	1,12441	2070	4151	6221	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1406022G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.278C>T	10.37:g.1406022G>A	ENSP00000370713:p.Ala93Val						p.A93V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	603	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	93					B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.278C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	5.998	0.367978	0.11352	0.0	1.2E-4	ENSG00000185736	ENST00000381312	T	0.24350	1.86	4.69	2.84	0.33178	.	1.304660	0.04734	N	0.421667	T	0.19886	0.0478	N	0.19112	0.55	0.25308	N	0.989223	B	0.15141	0.012	B	0.09377	0.004	T	0.29640	-1.0005	10	0.38643	T	0.18	-0.0474	10.0945	0.42466	0.0756:0.1376:0.7868:0.0	.	93	Q9NS39	RED2_HUMAN	V	93	ENSP00000370713:A93V	ENSP00000370713:A93V	A	-	2	0	ADARB2	1396022	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.487000	0.35540	0.418000	0.25898	-0.375000	0.07067	GCG		0.726	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		13	38	0	0	0	1	0	13	38				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		7	256	0	0	0	1	0	7	256				
DSCR4	10281	broad.mit.edu	37	21	39492431	39492431	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:39492431G>A	ENST00000328264.3	-	2	304	c.200C>T	c.(199-201)aCg>aTg	p.T67M	DSCR8_ENST00000357704.4_5'Flank|DSCR8_ENST00000400477.3_5'Flank|DSCR4_ENST00000398948.1_Missense_Mutation_p.T67M	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	67										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						tccagaatccgtaggagaagc	0.363																																						ENST00000328264.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						c.(199-201)aCg>aTg		Down syndrome critical region gene 4							48.0	55.0	53.0					21																	39492431		2203	4300	6503	SO:0001583	missense	10281							g.chr21:39492431G>A	AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000328264.3:c.200C>T	21.37:g.39492431G>A	ENSP00000328676:p.Thr67Met					DSCR4_ENST00000398948.1_Missense_Mutation_p.T67M	p.T67M	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN			2	304	-			67					Q4VB31	Missense_Mutation	SNP	ENST00000328264.3	37	c.200C>T	CCDS33554.1	.	.	.	.	.	.	.	.	.	.	G	7.406	0.633692	0.14322	.	.	ENSG00000184029	ENST00000398948;ENST00000328264	.	.	.	1.45	-2.03	0.07365	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	D	0.63880	0.993	B	0.41860	0.368	T	0.13602	-1.0503	7	0.87932	D	0	.	0.4825	0.00550	0.1868:0.246:0.3187:0.2485	.	67	P56555	DSCR4_HUMAN	M	67	.	ENSP00000328676:T67M	T	-	2	0	DSCR4	38414301	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	0.033000	0.13754	-0.677000	0.05231	0.313000	0.20887	ACG		0.363	DSCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000194834.1	NM_005867		11	295	0	0	0	1	0	11	295				
FAM66D	100132923	broad.mit.edu	37	8	11986707	11986707	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:11986707G>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AGAGAAGTCCGCTGGATTTCA	0.517																																						ENST00000434078.2																			0																																																			0							g.chr8:11986707G>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986707G>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.517	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		39	282	0	0	0	1	0	39	282				
HIPK3	10114	broad.mit.edu	37	11	33373763	33373763	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:33373763G>A	ENST00000303296.4	+	16	3428	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	HIPK3_ENST00000379016.3_Silent_p.Q1020Q|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Silent_p.Q1020Q|HIPK3_ENST00000456517.1_Silent_p.Q1020Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1041					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTACTCGTCAGCAAAAATTGA	0.413																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3121-3123)caG>caA		homeodomain interacting protein kinase 3							161.0	158.0	159.0					11																	33373763		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373763G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3123G>A	11.37:g.33373763G>A						HIPK3_ENST00000456517.1_Silent_p.Q1020Q|HIPK3_ENST00000525975.1_Silent_p.Q1020Q|HIPK3_ENST00000379016.3_Silent_p.Q1020Q	p.Q1041Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			16	3428	+			1041					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.3123G>A	CCDS7884.1																																																																																				0.413	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		7	936	0	0	0	1	0	7	936				
SPATA1	100505741	broad.mit.edu	37	1	84988200	84988201	+	RNA	INS	-	-	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:84988200_84988201insT	ENST00000370638.2	+	0	526							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GGTAAGTTTTCTTTTTTTTTCT	0.327																																						ENST00000370638.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10								spermatogenesis associated 1				11,4253		0,11,2121						1.0	0.1			48	15,8237		0,15,4111	no	intron	SPATA1	XM_003118960.2		0,26,6232	A1A1,A1R,RR		0.1818,0.258,0.2077				26,12490						100505741							g.chr1:84988200_84988201insT	AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84988209_84988209dupT													Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)	0	526	+								A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	INS	ENST00000370638.2	37																																																																																						0.327	SPATA1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000314701.1	NM_022354		7	276						7	276	---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs142534762|rs3217269|rs199701060|rs201060055	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.5	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718														1537	0.306909	0.5038	0.2954	5008	,	,		11352	0.0556		0.2624	False		,,,				2504	0.3538					ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(91-102)cgg>c		chitobiase, di-N-acetyl-				865,21,1798		349,2,165,3,13,810						-3.6	0.0		dbSNP_134	4	1279,4,4361		415,1,448,1,1,1956	no	codingComplex	CTBS	NM_004388.2		764,3,613,4,14,2766	A1A1,A1A2,A1R,A2A2,A2R,RR		22.7321,33.0104,26.0447				2144,25,6159				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85039999_85040007delGCAGCGCCA	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.92_100delTGGCGCTGC	1.37:g.85040008_85040016delGCAGCGCCA	ENSP00000359664:p.Leu31_Leu33del					CTBS_ENST00000477677.1_5'UTR	p.LALR31del	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	140_148	-			31					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.92_100delTGGCGCTGC	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		9	26						9	26	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			15	189						15	189	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142716575	142716578	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:142716575_142716578delAAAC	ENST00000610091.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422																																						ENST00000595144.1																			0																																																			0							g.chr1:142716575_142716578delAAAC																													1.37:g.142716583_142716586delAAAC														0	418	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.422	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			8	371						8	371	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		8	677						8	677	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127241	152127241	+	Silent	SNP	G	G	A	rs201916415		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152127241G>A	ENST00000316073.3	-	3	2398	c.2334C>T	c.(2332-2334)gaC>gaT	p.D778D		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	778	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GGTTCTGCTCGTCTTCATGGG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		24402	0.001		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2332-2334)gaC>gaT		repetin							761.0	606.0	653.0					1																	152127241		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127241G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2334C>T	1.37:g.152127241G>A							p.D778D	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	2398	-			778			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.2334C>T	CCDS41397.1																																																																																				0.463	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		345	1445	0	0	0	1	0	345	1445				
KIAA0907	22889	broad.mit.edu	37	1	155887381	155887382	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:155887381_155887382insG	ENST00000368321.3	-	11	1371_1372	c.1348_1349insC	c.(1348-1350)cagfs	p.Q450fs	KIAA0907_ENST00000368320.3_Frame_Shift_Ins_p.Q450fs|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	450	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GAGTGggggctggggctggggc	0.564																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1348-1350)gccfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155887381_155887382insG	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1349dupC	1.37:g.155887385_155887385dupG	ENSP00000357304:p.Gln450fs					KIAA0907_ENST00000368321.3_Frame_Shift_Ins_p.A450fs	p.A450fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1373_1374	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		450			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Ins	INS	ENST00000368321.3	37	c.1348_1349insC	CCDS30885.1																																																																																				0.564	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		10	280						10	280	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215747171	215747171	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:215747171delT	ENST00000259154.4	+	2	420	c.126delT	c.(124-126)tctfs	p.S42fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCCAGATTCTTTTTTTTCCA	0.229																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(124-126)tcfs		potassium channel tetramerization domain containing 3							70.0	77.0	75.0					1																	215747171		2195	4282	6477	SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215747171delT	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.126delT	1.37:g.215747171delT	ENSP00000259154:p.Ser42fs						p.S42fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	2	420	+			42			BTB.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Del	DEL	ENST00000259154.4	37	c.126delT	CCDS1515.1																																																																																				0.229	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		8	1048						8	1048	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55.0	55.0	55.0					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		12	438						12	438	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			15	211						15	211	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		10	496						10	496	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		7	248						7	248	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)tttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2887-2889)ttfs		RANBP2-like and GRIP domain containing 3							33.0	53.0	47.0					2																	107041534		692	1582	2274	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041534delA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2889delT	2.37:g.107041534delA	ENSP00000386588:p.Phe963fs					RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2976	-			963					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2889delT	CCDS46379.1																																																																																				0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		7	2277						7	2277	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																						ENST00000284669.1																			0											c.(208-210)aafs		kelch-like family member 41							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324							g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K72fs	NM_006063.2	NP_006054.2					1	285	+								Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		9	956						9	956	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aaafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(571-573)aafs		Sjogren syndrome antigen B (autoantigen La)							82.0	82.0	82.0					2																	170665008		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665008delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.571delA	2.37:g.170665008delA	ENSP00000386636:p.Lys192fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs	p.K192fs			P05455	LA_HUMAN			7	818	+			192					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.571delA	CCDS2237.1																																																																																				0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		9	519						9	519	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.E34del	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	13	229						13	229	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			13	1472						13	1472	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		10	499						10	499	---	---	---	---
SLC35G2	80723	broad.mit.edu	37	3	136573585	136573586	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:136573585_136573586insA	ENST00000446465.2	+	2	911_912	c.283_284insA	c.(283-285)gaafs	p.E95fs	RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Ins_p.E95fs	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GAGCTTTGCAGAAAAAAACATT	0.416																																						ENST00000446465.2																			0											c.(283-285)aaafs		solute carrier family 35, member G2																																				SO:0001589	frameshift_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136573585_136573586insA	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.290dupA	3.37:g.136573592_136573592dupA	ENSP00000400839:p.Glu95fs					SLC35G2_ENST00000393079.3_Frame_Shift_Ins_p.K95fs|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	p.K95fs	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	911_912	+			95						Frame_Shift_Ins	INS	ENST00000446465.2	37	c.283_284insA	CCDS3091.1																																																																																				0.416	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		52	565						52	565	---	---	---	---
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	lincRNA	DEL	AT	AT	-	rs139058677		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342																																						ENST00000473595.1																			0																																																			0							g.chr3:161146872_161146873delAT																													3.37:g.161146882_161146883delAT								NR_102265.1						0	1231	+									RNA	DEL	ENST00000473595.1	37																																																																																						0.342	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			10	134						10	134	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		11	1406						11	1406	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195395356	195395357	+	lincRNA	DEL	TG	TG	-	rs113879828		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:195395356_195395357delTG	ENST00000445430.1	+	0	796									long intergenic non-protein coding RNA 969																		CGTGGGCCACTGTGTGCAGTCA	0.604																																						ENST00000445430.1																			0																																																			0							g.chr3:195395356_195395357delTG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395360_195395361delTG														0	796	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.604	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	220						7	220	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1849-1854)cgc>c		solute carrier family 34 (type II sodium/phosphate contransporter), member 2																																				SO:0001651	inframe_deletion	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678148_25678150delGCT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del					SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del	p.RC617del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1900_1902	+		Breast(46;0.0503)	617			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	c.1850_1852delGCT	CCDS3435.1																																																																																				0.640	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		7	228						7	228	---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74650940	74650941	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:74650940_74650941insG	ENST00000287936.4	+	13	1779_1780	c.1623_1624insG	c.(1624-1626)ggafs	p.G542fs	HMGCR_ENST00000511206.1_Frame_Shift_Ins_p.G542fs|HMGCR_ENST00000343975.5_Intron	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	542	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTGGAGTGGCAGGACCCCTTTG	0.436																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1621-1626)gcgaccfs		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)		,	54,16,4196		0,0,54,0,16,2063					,	-2.0	1.0			97	80,53,8121		0,0,80,0,53,3994	no	intron,codingComplex	HMGCR	NM_001130996.1,NM_000859.2	,	0,0,134,0,69,6057	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6113,1.6409,1.6214	,	,		134,69,12317				SO:0001589	frameshift_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74650940_74650941insG		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1625dupG	5.37:g.74650942_74650942dupG	ENSP00000287936:p.Gly542fs					HMGCR_ENST00000343975.5_Intron|HMGCR_ENST00000511206.1_Frame_Shift_Ins_p.T542fs	p.T542fs	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	13	1779_1780	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	542			Catalytic.		B7Z3Y9|Q8N190	Frame_Shift_Ins	INS	ENST00000287936.4	37	c.1623_1624insG	CCDS4027.1																																																																																				0.436	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			7	509						7	509	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				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						c.(1141-1143)aafs	Mismatch excision repair (MMR)	mutS homolog 3							142.0	146.0	144.0					5																	79970915		2203	4300	6503	SO:0001589	frameshift_variant	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.chr5:79970915delA	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.1141delA	5.37:g.79970915delA	ENSP00000265081:p.Lys383fs						p.K383fs	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	7	1221	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	383					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	ENST00000265081.6	37	c.1141delA	CCDS34195.1																																																																																				0.348	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		8	801						8	801	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(268-270)gfs		IK cytokine, down-regulator of HLA II																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_ENST00000523672.1_3'UTR	p.E90fs	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	407_408	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		8	186						8	186	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140230590	140230590	+	Intron	DEL	T	T	-	rs17844337		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:140230590delT	ENST00000532602.1	+	1	3427				PCDHA9_ENST00000378122.3_Frame_Shift_Del_p.I837fs|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAGCAGATTTTTTTTCTG	0.279																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2509-2511)atfs									66.0	77.0	74.0					5																	140230590		2108	4207	6315	SO:0001627	intron_variant	0							g.chr5:140230590delT	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+116T>-	5.37:g.140230590delT						PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.I837fs	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3234	+								O15053|Q2M3S5	Frame_Shift_Del	DEL	ENST00000532602.1	37	c.2510delT	CCDS54920.1																																																																																				0.279	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		10	1631						10	1631	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGAAAATAGGATTGGGAGAGTA	0.475																																						ENST00000411500.1																			0																																																			0							g.chr6:32522379_32522380insC	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522379_32522380insC								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.475	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		9	236						9	236	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-	rs141838432		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGACTAGGAGAAAAAAAGGTA	0.517																																						ENST00000411500.1																			0																																																			0							g.chr6:32522756delA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522756delA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.517	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		7	84						7	84	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8198250	8198251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:8198250_8198251insT	ENST00000402384.3	-	7	877_878	c.611_612insA	c.(610-612)aacfs	p.N204fs	ICA1_ENST00000407906.1_Frame_Shift_Ins_p.N204fs|ICA1_ENST00000396675.3_Frame_Shift_Ins_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Ins_p.N192fs|ICA1_ENST00000422063.2_Frame_Shift_Ins_p.N204fs|ICA1_ENST00000265577.7_Frame_Shift_Ins_p.N203fs|ICA1_ENST00000406470.2_Frame_Shift_Ins_p.N204fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	204	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.N204fs*5(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATTTGTCAAAGTTTTTTTTTGC	0.376																																						ENST00000402384.3																			3	Deletion - Frameshift(3)	p.N204fs*5(3)	large_intestine(3)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(610-612)attfs		islet cell autoantigen 1, 69kDa																																				SO:0001589	frameshift_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8198250_8198251insT		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.612dupA	7.37:g.8198259_8198259dupT	ENSP00000385570:p.Asn204fs					ICA1_ENST00000265577.7_Frame_Shift_Ins_p.I203fs|ICA1_ENST00000422063.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000396675.3_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000406470.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000407906.1_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000401396.1_Frame_Shift_Ins_p.I192fs	p.I204fs			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	7	877_878	-		Ovarian(82;0.0612)	204			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Frame_Shift_Ins	INS	ENST00000402384.3	37	c.611_612insA	CCDS34602.1																																																																																				0.376	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		8	450						8	450	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs						p.K77fs	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		8	600						8	600	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagagfs	p.E1663fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E1651fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E1663fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1663					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4984-4989)tcagfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671392_91671393delAG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4986_4987delAG	7.37:g.91671402_91671403delAG	ENSP00000351922:p.Glu1663fs					AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs	p.SE1662fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5211_5212	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1662					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.4986_4987delAG																																																																																					0.411	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	346						8	346	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		9	455						9	455	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22021060	22021061	+	5'Flank	DEL	GT	GT	-	rs149538549		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:22021060_22021061delGT	ENST00000306385.5	+	0	0				SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000522109.1_Frame_Shift_Del_p.V146fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.M146fs*41(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAACTTCCAGGTGTGTGTGTGT	0.545																																						ENST00000522109.1																			1	Unknown(1)	p.M146fs*41(1)	large_intestine(1)	autonomic_ganglia(1)|large_intestine(1)|lung(1)	3	GRCh37	CS014615|CS022505	SFTPC	S	rs149538549	c.(436-438)gfs		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22021060_22021061delGT		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021070_22021071delGT	Exception_encountered					SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site	p.V146fs			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	460_461	+			146			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Del	DEL	ENST00000306385.5	37	c.436_437delGT	CCDS6026.1																																																																																				0.545	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		11	170						11	170	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457|rs368917144	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_ENST00000523202.1_In_Frame_Del_p.339_340AA>A|ZNF395_ENST00000523095.1_In_Frame_Del_p.339_340AA>A	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1015-1020)gcc>gc		zinc finger protein 395				554,80,3604		203,0,148,2,76,1690						-6.6	0.0			63	1049,5,7094		390,0,269,0,5,3410	no	codingComplex	ZNF395	NM_018660.2		593,0,417,2,81,5100	A1A1,A1A2,A1R,A2A2,A2R,RR		12.9357,14.9599,13.6283				1603,85,10698				SO:0001651	inframe_deletion	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209226_28209228delGCA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1017_1019delTGC	8.37:g.28209235_28209237delGCA	ENSP00000340494:p.Ala341del					ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1148_1150	-		Ovarian(32;2.06e-05)	339					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	In_Frame_Del	DEL	ENST00000344423.5	37	c.1017_1019delTGC	CCDS6067.1																																																																																				0.606	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			18	544						18	544	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		7	841						7	841	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86129664	86129664	+	IGR	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:86129664delT	ENST00000416274.2	+	0	1728				C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000417663.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCTTAAAGTTTTTTTGGCT	0.343																																						ENST00000417663.2																			0											c.(64-66)acfs		chromosome 8 open reading frame 59							196.0	178.0	184.0					8																	86129664		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129664delT	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86129664delT						C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs	p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			2	136	-			22					E9PBN9|Q16601|Q92756	Frame_Shift_Del	DEL	ENST00000416274.2	37	c.65delA	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		7	713						7	713	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89498122	89498122	+	RNA	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:89498122delA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							aacagctatgaaaaaaaaaac	0.383																																						ENST00000521433.1																			0																																																			0							g.chr8:89498122delA																													8.37:g.89498122delA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	DEL	ENST00000521433.1	37																																																																																						0.383	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			8	36						8	36	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1588-1590)ttfs		ATPase family, AAA domain containing 2							79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368685delA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs					ATAD2_ENST00000521903.1_5'UTR	p.F530fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1697	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		530					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.1590delT	CCDS6343.1																																																																																				0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	286						7	286	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)del		KN motif and ankyrin repeat domains 1			,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732475_732477delGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del	p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3755_3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1039					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	ENST00000382303.1	37	c.3103_3105delGAG	CCDS34976.1																																																																																				0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		7	451						7	451	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64952698	64952699	+	Splice_Site	INS	-	-	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:64952698_64952699insT	ENST00000399262.2	-	16	6293_6294	c.6075_6076insA	c.(6073-6078)aaagaa>aaaAgaa	p.E2026fs	JMJD1C_ENST00000542921.1_Splice_Site_p.E1844fs|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Splice_Site_p.E1789fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2026					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTATGTTTACCTTTTTTTTCCT	0.371																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.e16+1		jumonji domain containing 1C																																				SO:0001630	splice_region_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952698_64952699insT	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6076+1->A	10.37:g.64952706_64952706dupT						JMJD1C_ENST00000402544.1_Splice_Site_p.KK1788_splice|JMJD1C_ENST00000542921.1_Splice_Site_p.KK1843_splice|JMJD1C_ENST00000399251.1_3'UTR	p.KK2025_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6293_6294	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2025					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	INS	ENST00000399262.2	37	c.6076_splice	CCDS41532.1																																																																																				0.371	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Frame_Shift_Ins	7	401						7	401	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(457-459)tgfs		RUN and FYVE domain containing 2							81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70156583delT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs					RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs	p.M153fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			4	783	-			167			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	ENST00000602465.1	37	c.457delA																																																																																					0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		17	397						17	397	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		8	594						8	594	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		11	712						11	712	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(559-561)acfs		tripartite motif containing 21							211.0	212.0	212.0					11																	4409705		1950	4174	6124	SO:0001589	frameshift_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4409705delT	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.560delA	11.37:g.4409705delT	ENSP00000254436:p.Asn187fs					TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	672	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	187					Q5XPV5|Q96RF8	Frame_Shift_Del	DEL	ENST00000254436.7	37	c.560delA	CCDS44525.1																																																																																				0.483	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		7	1617						7	1617	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		20	590						20	590	---	---	---	---
TMEM41B	440026	broad.mit.edu	37	11	9308017	9308018	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:9308017_9308018insA	ENST00000528080.1	-	6	1028_1029	c.690_691insT	c.(688-693)tttattfs	p.I231fs	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	231					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAAGTACCAATAAAAAAAACTT	0.361																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(688-693)ttttggfs		transmembrane protein 41B																																				SO:0001589	frameshift_variant	440026					integral to membrane		g.chr11:9308017_9308018insA	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.691dupT	11.37:g.9308025_9308025dupA	ENSP00000433126:p.Ile231fs					TMEM41B_ENST00000527813.1_Intron	p.W231fs	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	6	1028_1029	-			231					D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Ins	INS	ENST00000528080.1	37	c.690_691insT	CCDS31424.1																																																																																				0.361	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			7	716						7	716	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32635951	32635951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:32635951delT	ENST00000335185.5	-	16	1956	c.1913delA	c.(1912-1914)aatfs	p.N638fs	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	638								p.N638fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGGAACAGGATTTTTTTTTAT	0.313																																						ENST00000335185.5																			1	Deletion - Frameshift(1)	p.N638fs*18(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(1912-1914)atfs		coiled-coil domain containing 73							63.0	57.0	59.0					11																	32635951		1802	4077	5879	SO:0001589	frameshift_variant	493860							g.chr11:32635951delT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1913delA	11.37:g.32635951delT	ENSP00000335325:p.Asn638fs						p.N638fs	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	1956	-	Breast(20;0.112)		638					Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Del	DEL	ENST00000335185.5	37	c.1913delA	CCDS41630.1																																																																																				0.313	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		7	359						7	359	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			0							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		8	27						8	27	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:47359101_47359103delTCT	ENST00000545968.1	-	25	2495_2497	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_ENST00000256993.4_In_Frame_Del_p.K813del|MYBPC3_ENST00000399249.2_In_Frame_Del_p.K814del	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	814	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601																																						ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42	GRCh37	CD021840	MYBPC3	D		c.(2440-2445)agc>a		myosin binding protein C, cardiac																																				SO:0001651	inframe_deletion	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47359101_47359103delTCT	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2441_2443delAGA	11.37:g.47359110_47359112delTCT	ENSP00000442795:p.Lys814del					MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del|MYBPC3_ENST00000399249.2_In_Frame_Del_p.KS814del	p.KS814del	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	25	2495_2497	-			813			Fibronectin type-III 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	In_Frame_Del	DEL	ENST00000545968.1	37	c.2441_2443delAGA	CCDS53621.1																																																																																				0.601	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			10	375						10	375	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67177170	67177171	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:67177170_67177171insG	ENST00000542590.1	+	9	1300_1301	c.1286_1287insG	c.(1285-1290)gaggggfs	p.EG429fs	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000312390.5_Frame_Shift_Ins_p.EG429fs			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	429	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCCCCATCGAGGGGCCCCCCA	0.683																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1285-1287)gggfs		TBC1 domain family, member 10C																																				SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67177170_67177171insG	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1290dupG	11.37:g.67177174_67177174dupG	ENSP00000443654:p.Glu429fs					TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G429fs	p.G429fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1315_1316	+			429			Interaction with calcineurin.		G3V1D6	Frame_Shift_Ins	INS	ENST00000542590.1	37	c.1286_1287insG	CCDS8162.1																																																																																				0.683	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		12	124						12	124	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118344186	118344186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:118344186delC	ENST00000389506.5	+	3	2312	c.2312delC	c.(2311-2313)accfs	p.T771fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.T771fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T771fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	771					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCACCTCTCACCCCCCCGTCT	0.453																																						ENST00000534358.1																			0											c.(2311-2313)acfs		lysine (K)-specific methyltransferase 2A							197.0	169.0	178.0					11																	118344186		2200	4296	6496	SO:0001589	frameshift_variant	4297							g.chr11:118344186delC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2312delC	11.37:g.118344186delC	ENSP00000374157:p.Thr771fs					KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T771fs|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T771fs	p.T771fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2335	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.2312delC	CCDS31686.1																																																																																				0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		8	1116						8	1116	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1363-1368)tat>t		Cbl proto-oncogene, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149356_119149358delATG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1364_1366delATG	11.37:g.119149365_119149367delATG	ENSP00000264033:p.Asp460del						p.YD455del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1740_1742	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	455			Asp/Glu-rich (acidic).		A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.1364_1366delATG	CCDS8418.1																																																																																				0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		10	327						10	327	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:6711546delT	ENST00000357008.2	-	3	381	c.218delA	c.(217-219)aagfs	p.K73fs	CHD4_ENST00000309577.6_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	73					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(217-219)agfs		chromodomain helicase DNA binding protein 4							229.0	232.0	231.0					12																	6711546		2203	4300	6503	SO:0001589	frameshift_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711546delT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.218delA	12.37:g.6711546delT	ENSP00000349508:p.Lys73fs					CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs	p.K73fs			Q14839	CHD4_HUMAN			3	381	-			73					Q8IXZ5	Frame_Shift_Del	DEL	ENST00000357008.2	37	c.218delA	CCDS8552.1																																																																																				0.468	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	1404						7	1404	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20833140	20833142	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:20833140_20833142delGAA	ENST00000359062.3	+	16	3401_3403	c.3361_3363delGAA	c.(3361-3363)gaadel	p.E1125del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1125	Poly-Glu.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGCTATCAAGGAAGAAGAAGAAG	0.478																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3361-3363)del		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)																																			SO:0001651	inframe_deletion	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833140_20833142delGAA		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3361_3363delGAA	12.37:g.20833149_20833151delGAA	ENSP00000351957:p.Glu1125del					PDE3A_ENST00000544307.1_3'UTR	p.E1125del	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3401_3403	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1125			Poly-Glu.		O60865|Q13348|Q17RD1	In_Frame_Del	DEL	ENST00000359062.3	37	c.3361_3363delGAA	CCDS31754.1																																																																																				0.478	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			7	507						7	507	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		11	621						11	621	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		11	436						11	436	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23912864	23912864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:23912864delT	ENST00000382292.3	-	9	5424	c.5151delA	c.(5149-5151)aaafs	p.K1717fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.K1717fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1717					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAGCAGGATTTTTTTTTAA	0.358																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5149-5151)aafs		spastic ataxia of Charlevoix-Saguenay (sacsin)							40.0	42.0	42.0					13																	23912864		2202	4299	6501	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912864delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5151delA	13.37:g.23912864delT	ENSP00000371729:p.Lys1717fs					SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs	p.K1717fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5739	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1717					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.5151delA	CCDS9300.2																																																																																				0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	327						7	327	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aaafs	p.K917fs	ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.E1340fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	917					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2743-2745)aafs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							79.0	77.0	77.0					13																	103524612		2203	4300	6503	SO:0001589	frameshift_variant	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103524612delA	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2743delA	13.37:g.103524612delA	ENSP00000347978:p.Lys917fs					ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs	p.K917fs	NM_000123.3	NP_000114.2					13	4166	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Frame_Shift_Del	DEL	ENST00000355739.4	37	c.2743delA	CCDS32004.1																																																																																				0.428	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			9	360						9	360	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-	rs571846793		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	930						10	930	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:45642288_45642289delCT	ENST00000267430.5	+	13	2276_2277	c.2191_2192delCT	c.(2191-2193)ctcfs	p.L731fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	731					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2191-2193)cfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M																																				SO:0001589	frameshift_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45642288_45642289delCT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2191_2192delCT	14.37:g.45642298_45642299delCT	ENSP00000267430:p.Leu731fs					FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs	p.L731fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			13	2276_2277	+			731					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	37	c.2191_2192delCT	CCDS32070.1																																																																																				0.347	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		7	476						7	476	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58831996	58831997	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:58831996_58831997delAG	ENST00000355431.3	+	20	3562_3563	c.3189_3190delAG	c.(3187-3192)caagagfs	p.E1064fs	ARID4A_ENST00000395168.3_Frame_Shift_Del_p.E1064fs|ARID4A_ENST00000348476.3_Frame_Shift_Del_p.E1064fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.E1064fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1064					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAATTGTACAAGAGAGAGAGAG	0.381																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3187-3192)caagfs		AT rich interactive domain 4A (RBP1-like)																																				SO:0001589	frameshift_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831996_58831997delAG	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3189_3190delAG	14.37:g.58832006_58832007delAG	ENSP00000347602:p.Glu1064fs					ARID4A_ENST00000395168.3_Frame_Shift_Del_p.QE1063fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.QE1063fs|ARID4A_ENST00000348476.3_Frame_Shift_Del_p.QE1063fs	p.QE1063fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	3562_3563	+			1063					Q15991|Q15992|Q15993	Frame_Shift_Del	DEL	ENST00000355431.3	37	c.3189_3190delAG	CCDS9732.1																																																																																				0.381	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		7	493						7	493	---	---	---	---
IGHV3-11	28450	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432|rs367875175	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		ATATGGTACTACCACTACTACTA	0.522																																						ENST00000390601.2																			0																																																			0							g.chr14:106573362_106573364delACC	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573362_106573364delACC														0	339_341	-									RNA	DEL	ENST00000390601.2	37																																																																																						0.522	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		17	1832						17	1832	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709286	22709288	+	RNA	DEL	AAG	AAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:22709286_22709288delAAG	ENST00000314246.8	-	0	1157				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCAaaaaaaaaagaaaagaaaag	0.517																																						ENST00000314246.8																			0																																																			0							g.chr15:22709286_22709288delAAG			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709286_22709288delAAG														0	1157	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.517	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		14	253						14	253	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25324325	25324325	+	RNA	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:25324325delT	ENST00000546682.1	+	0	0				SNHG14_ENST00000549804.2_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-13_ENST00000384408.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-12_ENST00000384468.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACAACTGTCATTTTTTTTGAT	0.478																																						ENST00000549804.2																			0																	12,2458		5,2,1228	82.0	80.0	80.0			0.2	0.1	15		82	18,4858		8,2,2428	no	intergenic				13,4,3656	A1A1,A1R,RR		0.3692,0.4858,0.4084			25324325	30,7316	876	1991	2867			0							g.chr15:25324325delT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25324325delT														0	1377	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.478	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			7	413						7	413	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25456925	25456925	+	RNA	DEL	G	G	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:25456925delG	ENST00000424208.1	+	0	2516				SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGTGGGCAGGGGGGGTGCC	0.557																																						ENST00000424208.1																			0																				213.0	225.0	221.0					15																	25456925		876	1991	2867			0							g.chr15:25456925delG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25456925delG						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2516	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.557	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			8	1144						8	1144	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		7	984						7	984	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50741645	50741645	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:50741645delG	ENST00000396444.3	+	4	636	c.298delG	c.(298-300)gaafs	p.E101fs	USP8_ENST00000307179.4_Frame_Shift_Del_p.E101fs|USP8_ENST00000425032.3_Intron|USP8_ENST00000433963.1_Frame_Shift_Del_p.E101fs	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	101	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAAAGCTGTCGAAGAAGCTGA	0.289																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(298-300)aafs		ubiquitin specific peptidase 8							47.0	49.0	48.0					15																	50741645		2191	4292	6483	SO:0001589	frameshift_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50741645delG	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.298delG	15.37:g.50741645delG	ENSP00000379721:p.Glu101fs					USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Frame_Shift_Del_p.E101fs|USP8_ENST00000396444.3_Frame_Shift_Del_p.E101fs	p.E101fs	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	5	798	+			101			MIT.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Frame_Shift_Del	DEL	ENST00000396444.3	37	c.298delG	CCDS10137.1																																																																																				0.289	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		41	388						41	388	---	---	---	---
TMOD3	29766	broad.mit.edu	37	15	52161562	52161562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:52161562delA	ENST00000308580.7	+	3	556	c.275delA	c.(274-276)gaafs	p.E92fs	TMOD3_ENST00000544199.1_Frame_Shift_Del_p.E92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	92						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TACACTGGAGAAAAAAAAGGT	0.388																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(274-276)gafs		tropomodulin 3 (ubiquitous)							79.0	82.0	81.0					15																	52161562		2195	4293	6488	SO:0001589	frameshift_variant	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52161562delA	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.275delA	15.37:g.52161562delA	ENSP00000308753:p.Glu92fs					TMOD3_ENST00000544199.1_Frame_Shift_Del_p.E92fs	p.E92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	3	556	+			92					B2R6G7|Q9NT43|Q9NZR0	Frame_Shift_Del	DEL	ENST00000308580.7	37	c.275delA	CCDS10145.1																																																																																				0.388	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			10	648						10	648	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.49																																						ENST00000326648.3																			1	Deletion - Frameshift(1)	p.K734fs*12(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2191-2196)gaaaaafs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967246_64967247insA	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs						p.EK731fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2321_2322	+			731			Poly-Lys.		Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2193_2194insA	CCDS32270.1																																																																																				0.490	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		7	1088						7	1088	---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74836290	74836292	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:74836290_74836292delCAG	ENST00000346246.5	+	2	244_246	c.13_15delCAG	c.(13-15)cagdel	p.Q15del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	15	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGAGCCACTTcagcagcagcagc	0.562																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(13-15)del		AT rich interactive domain 3B (BRIGHT-like)				235,184,3735		16,2,201,6,170,1682						1.5	0.2			16	314,329,7401		14,1,285,11,306,3405	no	codingComplex	ARID3B	NM_006465.2		30,3,486,17,476,5087	A1A1,A1A2,A1R,A2A2,A2R,RR		7.9935,10.0867,8.7063				549,513,11136				SO:0001651	inframe_deletion	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74836290_74836292delCAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.13_15delCAG	15.37:g.74836299_74836301delCAG	ENSP00000343126:p.Gln15del						p.Q15del	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			2	244_246	+			15			Gln-rich.		O95443|Q59HC9|Q6P9C9	In_Frame_Del	DEL	ENST00000346246.5	37	c.13_15delCAG	CCDS10264.1																																																																																				0.562	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		9	133						9	133	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	42						8	42	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		11	1184						11	1184	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			11	423						11	423	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		7	465						7	465	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:7193599delG	ENST00000007699.5	-	5	778	c.715delC	c.(715-717)cggfs	p.R239fs	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	239	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(715-717)ggfs		Y box binding protein 2							94.0	114.0	107.0					17																	7193599		2201	4292	6493	SO:0001589	frameshift_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193599delG	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.715delC	17.37:g.7193599delG	ENSP00000007699:p.Arg239fs						p.R239fs	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			5	778	-			239			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Frame_Shift_Del	DEL	ENST00000007699.5	37	c.715delC	CCDS11098.1																																																																																				0.622	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		8	1078						8	1078	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														0							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA														0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		11	17						11	17	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		8	287						8	287	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65905759	65905759	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:65905759delA	ENST00000321892.4	+	12	3313	c.3252delA	c.(3250-3252)ccafs	p.P1084fs	BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1084					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACGAAGTCCAAAAAAAATAA	0.308																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(3250-3252)ccfs		bromodomain PHD finger transcription factor			,	38,4214		0,38,2088	38.0	40.0	39.0		,	5.6	1.0	17		40	45,8205		3,39,4083	no	frameshift,frameshift	BPTF	NM_182641.3,NM_004459.6	,	3,77,6171	A1A1,A1R,RR		0.5455,0.8937,0.6639	,	,	65905759	83,12419	2202	4299	6501	SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65905759delA	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3252delA	17.37:g.65905759delA	ENSP00000315454:p.Pro1084fs					BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs	p.P1084fs			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	3313	+	all_cancers(12;6e-11)		1084					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.3252delA																																																																																					0.308	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	316						7	316	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			7	624						7	624	---	---	---	---
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433																																						ENST00000322247.3																			1	Deletion - Frameshift(1)	p.K109fs*29(1)	large_intestine(1)								c.(325-327)agfs		family with sequence similarity 210, member A																																				SO:0001589	frameshift_variant	125228					integral to membrane		g.chr18:13681751delT	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.326delA	18.37:g.13681751delT	ENSP00000323635:p.Lys109fs					FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	713	-			109					D3DUJ4	Frame_Shift_Del	DEL	ENST00000322247.3	37	c.326delA	CCDS11866.1																																																																																				0.433	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		9	946						9	946	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T	rs553350987		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaagagfs	p.E305fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	GRCh37	CI992039	LMAN1	I		c.(910-915)aaaggafs		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)			1,4263		0,1,2131						5.7	1.0			139	0,8254		0,0,4127	no	frameshift	LMAN1	NM_005570.3		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001589	frameshift_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013193_57013194insT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.913dupA	18.37:g.57013202_57013202dupT	ENSP00000251047:p.Glu305fs						p.G305fs	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			8	1629_1630	-		Colorectal(73;0.0946)	305					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Ins	INS	ENST00000251047.5	37	c.912_913insA	CCDS11974.1																																																																																				0.455	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		7	394						7	394	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20359846	20359847	+	RNA	DEL	GT	GT	-	rs142545494|rs549678051		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:20359846_20359847delGT	ENST00000593655.1	-	0	199																											TTAAGTAAAGGTGTGTGTGTGT	0.421																																						ENST00000593655.1																			0																																																			0							g.chr19:20359846_20359847delGT																													19.37:g.20359856_20359857delGT														0	199	-									RNA	DEL	ENST00000593655.1	37																																																																																						0.421	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			13	423						13	423	---	---	---	---
NUDT19	390916	broad.mit.edu	37	19	33200189	33200190	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:33200189_33200190delCT	ENST00000397061.3	+	2	813_814	c.813_814delCT	c.(811-816)gcctctfs	p.S272fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	272						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAACTTTGCCTCTCTCTCTGA	0.45																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(811-816)gcctfs		nudix (nucleoside diphosphate linked moiety X)-type motif 19																																				SO:0001589	frameshift_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200189_33200190delCT		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.813_814delCT	19.37:g.33200197_33200198delCT	ENSP00000380251:p.Ser272fs						p.AS271fs	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	813_814	+	Esophageal squamous(110;0.137)		271						Frame_Shift_Del	DEL	ENST00000397061.3	37	c.813_814delCT	CCDS42543.1																																																																																				0.450	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		8	1994						8	1994	---	---	---	---
FXYD1	5348	broad.mit.edu	37	19	35631514	35631515	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:35631514_35631515insC	ENST00000588081.1	+	2	133_134	c.75_76insC	c.(76-78)cacfs	p.H26fs	FXYD1_ENST00000455515.2_Frame_Shift_Ins_p.H26fs|FXYD1_ENST00000589209.1_Frame_Shift_Ins_p.H26fs|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000351325.4_Frame_Shift_Ins_p.H26fs|FXYD1_ENST00000588607.1_Frame_Shift_Ins_p.H26fs|FXYD7_ENST00000586063.1_5'Flank|FXYD1_ENST00000588715.1_Frame_Shift_Ins_p.H26fs|FXYD7_ENST00000270310.2_5'Flank|FXYD7_ENST00000588265.1_5'Flank|LGI4_ENST00000493050.1_Intron			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	26					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCCAAAGGAACACGACCCGTT	0.584																																						ENST00000588081.1																			0				lung(3)	3						c.(73-78)gaacgafs		FXYD domain containing ion transport regulator 1																																				SO:0001589	frameshift_variant	5348				muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35631514_35631515insC		CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"""phospholemman"""	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.76dupC	19.37:g.35631515_35631515dupC	ENSP00000467727:p.His26fs					FXYD1_ENST00000589209.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000588715.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000455515.2_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000588607.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000351325.4_Frame_Shift_Ins_p.ER25fs|LGI4_ENST00000493050.1_Intron|CTD-2527I21.4_ENST00000592174.1_RNA	p.ER25fs			O00168	PLM_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		2	133_134	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		25					A8K196	Frame_Shift_Ins	INS	ENST00000588081.1	37	c.75_76insC	CCDS12445.1																																																																																				0.584	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1	NM_021902		7	827						7	827	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		7	105						7	105	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-	rs139624657|rs377069149|rs142743305		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4075-4080)gaa>ga		periaxin																																				SO:0001651	inframe_deletion	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900180_40900182delTCC	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077_4079delGGA	19.37:g.40900189_40900191delTCC	ENSP00000326018:p.Glu1361del					PRX_ENST00000291825.7_3'UTR	p.EE1359del	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4347_4349	-			1359		Missing.	Poly-Glu.		Q9BXL9|Q9HCF2	In_Frame_Del	DEL	ENST00000324001.7	37	c.4077_4079delGGA	CCDS33028.1																																																																																				0.695	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		17	363						17	363	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		10	606						10	606	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2131-2136)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299147_46299149delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2132_2134delAGG	19.37:g.46299156_46299158delCCT	ENSP00000221538:p.Glu711del					RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	p.EG711del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2274_2276	-			711			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2132_2134delAGG	CCDS12675.1																																																																																				0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			11	581						11	581	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			10	340						10	340	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60587922	60587923	+	Frame_Shift_Ins	INS	-	-	GCCT			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:60587922_60587923insGCCT	ENST00000252996.4	-	3	1588_1589	c.1589_1590insAGGC	c.(1588-1590)gccfs	p.-530fs	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CCGTTGTCTGGGCCTGAGACAC	0.589																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1588-1590)gcafs		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa																																				SO:0001589	frameshift_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60587922_60587923insGCCT	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1586_1589dupAGGC	20.37:g.60587923_60587926dupGCCT	ENSP00000252996:p.Ala530fs						p.-529fs	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		3	1588_1589	-	Breast(26;1e-08)							A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Frame_Shift_Ins	INS	ENST00000252996.4	37	c.1589_1590insAGGC	CCDS33500.1																																																																																				0.589	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		81	500						81	500	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443416	17443417	+	lincRNA	DEL	TG	TG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431																																						ENST00000458468.1																			0																																																			0							g.chr21:17443416_17443417delTG																													21.37:g.17443426_17443427delTG								NR_027790.1						0	27	+									RNA	DEL	ENST00000458468.1	37																																																																																						0.431	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			9	605						9	605	---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44513281	44513282	+	In_Frame_Ins	INS	-	-	CCG			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:44513281_44513282insCCG	ENST00000291552.4	-	8	745_746	c.653_654insCGG	c.(652-654)ggt>ggCGGt	p.218_218G>GG	U2AF1_ENST00000398137.1_In_Frame_Ins_p.145_145G>GG|U2AF1_ENST00000486519.1_5'Flank|U2AF1_ENST00000459639.1_In_Frame_Ins_p.145_145G>GG|U2AF1_ENST00000380276.2_In_Frame_Ins_p.218_218G>GG	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	218	Arg/Gly/Ser-rich (RS domain).|Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cgccacctccaccaccgccacc	0.574			Mis		"""CLL, MDS"""																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(433-435)ggg>gCGGgg		U2 small nuclear RNA auxiliary factor 1																																				SO:0001652	inframe_insertion	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44513281_44513282insCCG	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.653_654insCGG	21.37:g.44513281_44513282insCCG	ENSP00000291552:p.Gly223dup					U2AF1_ENST00000398137.1_In_Frame_Ins_p.144_145insA|U2AF1_ENST00000291552.4_In_Frame_Ins_p.217_218insA|U2AF1_ENST00000380276.2_In_Frame_Ins_p.217_218insA	p.144_145insA			Q01081	U2AF1_HUMAN			7	1458_1459	-			217			RRM.		Q701P4|Q71RF1	In_Frame_Ins	INS	ENST00000291552.4	37	c.434_435insCGG	CCDS13694.1																																																																																				0.574	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		8	213						8	213	---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-	rs145794160	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	CTA-445C9.14_ENST00000565764.1_RNA|CTA-445C9.14_ENST00000566814.1_RNA|TFIP11_ENST00000405938.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000407148.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000407431.1_In_Frame_Del_p.18_19DD>D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.|Required for interaction with DHX15.				biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(52-57)gac>ga		tuftelin interacting protein 11			,	3,4261		1,1,2130					,	-10.5	0.0			93	1,8253		0,1,4126	no	coding,coding	TFIP11	NM_012143.2,NM_001008697.1	,	1,2,6256	A1A1,A1R,RR		0.0121,0.0704,0.032	,	,		4,12514				SO:0001651	inframe_deletion	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906183_26906185delTCA	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.54_56delTGA	22.37:g.26906192_26906194delTCA	ENSP00000384421:p.Asp19del					TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			4	337_339	-			18			Poly-Asp.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	In_Frame_Del	DEL	ENST00000407690.1	37	c.54_56delTGA	CCDS13838.1																																																																																				0.532	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		8	466						8	466	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-	rs312262846|rs312262847|rs312262848		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48.0	47.0	47.0			4.2	1.0	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		11	252						11	252	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	162						7	162	---	---	---	---
