#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCB8	11194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150731895	150731895	+	Silent	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr7:150731895C>T	ENST00000297504.6	+	6	861	c.795C>T	c.(793-795)tcC>tcT	p.S265S	ABCB8_ENST00000477092.1_Silent_p.S248S|ABCB8_ENST00000498578.1_Silent_p.S248S|ABCB8_ENST00000358849.4_Silent_p.S248S|ABCB8_ENST00000477719.1_Silent_p.S248S|ABCB8_ENST00000542328.1_Silent_p.S160S|ABCB8_ENST00000356058.4_Silent_p.S285S			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	265	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.S248S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TTAAGTCATCCTTCAAGCTTG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											142.0	118.0	126.0					7																	150731895		2203	4300	6503	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.795C>T	7.37:g.150731895C>T			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	ENST00000297504.6	37																																																																																					0.572	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2		NM_007188	
ANKRD12	23253	hgsc.bcm.edu;ucsc.edu	37	18	9254423	9254423	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr18:9254423delA	ENST00000262126.4	+	9	1398	c.1158delA	c.(1156-1158)cgafs	p.R386fs	ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.R363fs|ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.R363fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	386						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAGAACAACGAAAAGAAAATG	0.318																																																	0													79.0	86.0	84.0					18																	9254423		2203	4300	6503	SO:0001589	frameshift_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1158delA	18.37:g.9254423delA	ENSP00000262126:p.Arg386fs		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	ENST00000262126.4	37	CCDS11843.1																																																																																				0.318	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2		NM_015208	
ASPSCR1	79058	broad.mit.edu;hgsc.bcm.edu	37	17	79941541	79941541	+	Silent	SNP	C	C	T	rs368306368		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:79941541C>T	ENST00000306739.4	+	3	367	c.270C>T	c.(268-270)aaC>aaT	p.N90N	ASPSCR1_ENST00000306729.7_Silent_p.N90N|ASPSCR1_ENST00000580534.1_Silent_p.N13N|ASPSCR1_ENST00000581647.1_Silent_p.N90N	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	90					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)		p.N90N(1)	ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCCTGAGAACATGGTGGGTC	0.647			T	TFE3	alveolar soft part sarcoma																																			Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	50.0	40.0	44.0		270	0.7	0.4	17		44	0,8598		0,0,4299	no	coding-synonymous	ASPSCR1	NM_024083.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		90/554	79941541	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.270C>T	17.37:g.79941541C>T			A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	CCDS11796.1																																																																																				0.647	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1		NM_024083	
BCAN	63827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156628842	156628843	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:156628842_156628843GG>AC	ENST00000329117.5	+	14	2988_2989	c.2652_2653GG>AC	c.(2650-2655)gaGGac>gaACac	p.D885H	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	885					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.E884E(1)|p.D885H(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCCAGAGGAGGACCCAGAAGG	0.634																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	Exception_encountered	1.37:g.156628842_156628843delinsAC	ENSP00000331210:p.Asp885His		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent|Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1																																																																																				0.634	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2		NM_021948	
BTN3A1	11119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	26413447	26413447	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:26413447G>A	ENST00000289361.6	+	10	1437	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E305K|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E357K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTGTTTCTGAGGACCAGAG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											124.0	132.0	129.0					6																	26413447		2203	4300	6503	SO:0001583	missense	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1069G>A	6.37:g.26413447G>A	ENSP00000289361:p.Glu357Lys		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	17.48	3.399252	0.62177	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.14391	2.51;2.51	2.96	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.18383	0.0441	L	0.49256	1.55	0.21897	N	0.99949	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.995	T	0.02471	-1.1154	9	0.72032	D	0.01	.	12.1142	0.53856	0.0:0.0:1.0:0.0	.	305;357	E9PGB4;O00481	.;BT3A1_HUMAN	K	357;305	ENSP00000289361:E357K;ENSP00000406667:E305K	ENSP00000289361:E357K	E	+	1	0	BTN3A1	26521426	0.818000	0.29161	0.019000	0.16419	0.141000	0.21300	2.961000	0.49168	1.573000	0.49748	0.609000	0.83330	GAG		0.498	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			
NUTM1	256646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34640772	34640772	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr15:34640772T>A	ENST00000333756.4	+	2	774	c.619T>A	c.(619-621)Tcc>Acc	p.S207T	NUTM1_ENST00000537011.1_Missense_Mutation_p.S235T|NUTM1_ENST00000438749.3_Missense_Mutation_p.S225T	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	207						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S207T(1)									CTCCAAAATTTCCAAGGACGT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											51.0	53.0	52.0					15																	34640772		2201	4298	6499	SO:0001583	missense	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.619T>A	15.37:g.34640772T>A	ENSP00000329448:p.Ser207Thr		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.194296	0.58017	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.25912	1.77;1.77;1.77	5.69	3.41	0.39046	Nuclear Testis  protein, N-terminal (1);	0.102344	0.44285	D	0.000464	T	0.41581	0.1165	M	0.72118	2.19	0.31905	N	0.615393	D;D;D	0.67145	0.996;0.995;0.996	D;P;D	0.65773	0.915;0.862;0.938	T	0.47509	-0.9112	10	0.23891	T	0.37	.	7.8145	0.29252	0.0:0.1651:0.0:0.8349	.	225;235;207	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	T	235;225;207;207	ENSP00000444896:S235T;ENSP00000407031:S225T;ENSP00000329448:S207T	ENSP00000329448:S207T	S	+	1	0	C15orf55	32428064	1.000000	0.71417	0.852000	0.33557	0.510000	0.34073	2.948000	0.49066	0.455000	0.26910	0.533000	0.62120	TCC		0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741	
C4orf29	80167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	128905554	128905554	+	Silent	SNP	C	C	T	rs201269910		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr4:128905554C>T	ENST00000444616.1	+	3	400	c.153C>T	c.(151-153)agC>agT	p.S51S	C4orf29_ENST00000388795.5_5'UTR|C4orf29_ENST00000398965.1_Silent_p.S51S			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	51						extracellular region (GO:0005576)		p.S51S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGGTTTCAAGCGATTATCCAG	0.318																																																	2	Substitution - coding silent(2)	kidney(2)											64.0	60.0	61.0					4																	128905554		1769	3956	5725	SO:0001819	synonymous_variant	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.153C>T	4.37:g.128905554C>T			A1A4W8|A1A4W9|Q9H7A7	Silent	SNP	ENST00000444616.1	37																																																																																					0.318	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1		NM_001039717	
CASP8AP2	9994	hgsc.bcm.edu;ucsc.edu	37	6	90573431	90573432	+	RNA	DEL	TG	TG	-	rs565334623		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:90573431_90573432delTG	ENST00000551025.1	+	0	3440_3441									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GACAATACTATGCATTGTGAAG	0.411																																					Colon(187;1656 2025 17045 31481 39901)												0																																												9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573431_90573432delTG				Frame_Shift_Del	DEL	ENST00000551025.1	37																																																																																					0.411	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667	
CD7	924	hgsc.bcm.edu	37	17	80274159	80274160	+	Frame_Shift_Ins	INS	-	-	T	rs569923406|rs200504177	byFrequency	TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:80274159_80274160insT	ENST00000312648.3	-	3	629_630	c.523_524insA	c.(523-525)gcafs	p.A175fs	CD7_ENST00000583376.1_Frame_Shift_Ins_p.A75fs|CD7_ENST00000578509.1_Frame_Shift_Ins_p.A75fs|CD7_ENST00000584284.1_Frame_Shift_Ins_p.A175fs	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	175	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GGCAGAGGCTGCTGGCGGGTCA	0.718													?|-|T|unsure	60	0.0119808	0.0008	0.0274	5008	,	,		11744	0.001		0.0338	False		,,,				2504	0.0051				Pancreas(45;804 1068 19702 28207 28798)												0																																										SO:0001589	frameshift_variant	924			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.523_524insA	17.37:g.80274159_80274160insT	ENSP00000312027:p.Ala175fs			Frame_Shift_Ins	INS	ENST00000312648.3	37	CCDS11807.1																																																																																				0.718	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1		NM_006137	
CD7	924	hgsc.bcm.edu	37	17	80274162	80274162	+	Frame_Shift_Del	DEL	G	G	-	rs201027731|rs555569626	byFrequency	TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:80274162delG	ENST00000312648.3	-	3	627	c.521delC	c.(520-522)ccafs	p.P174fs	CD7_ENST00000583376.1_Frame_Shift_Del_p.P74fs|CD7_ENST00000578509.1_Frame_Shift_Del_p.P74fs|CD7_ENST00000584284.1_Frame_Shift_Del_p.P174fs	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	174	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			AGAGGCTGCTGGCGGGTCAGG	0.716													?|GG|G|unsure	60	0.0119808	0.0008	0.0274	5008	,	,		11833	0.001		0.0338	False		,,,				2504	0.0051				Pancreas(45;804 1068 19702 28207 28798)												0													11.0	14.0	13.0					17																	80274162		2162	4241	6403	SO:0001589	frameshift_variant	924			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.521delC	17.37:g.80274162delG	ENSP00000312027:p.Pro174fs			Frame_Shift_Del	DEL	ENST00000312648.3	37	CCDS11807.1																																																																																				0.716	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1		NM_006137	
CDK12	51755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37681093	37681093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:37681093C>T	ENST00000447079.4	+	12	3295	c.3262C>T	c.(3262-3264)Cag>Tag	p.Q1088*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q1088*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1088					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)	p.Q1088*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCACCACCTCAGCCTGCTCC	0.527			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Nonsense(1)	kidney(1)											77.0	78.0	78.0					17																	37681093		2203	4300	6503	SO:0001587	stop_gained	51755			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.3262C>T	17.37:g.37681093C>T	ENSP00000398880:p.Gln1088*		A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	39	7.523863	0.98335	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	4.98	4.98	0.66077	.	0.000000	0.41001	D	0.000969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-1.6312	16.2155	0.82211	0.0:1.0:0.0:0.0	.	.	.	.	X	1088	.	ENSP00000407720:Q1088X	Q	+	1	0	CDK12	34934619	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.496000	0.60360	2.591000	0.87537	0.563000	0.77884	CAG		0.527	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507	
CREBBP	1387	broad.mit.edu;ucsc.edu	37	16	3860701	3860701	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr16:3860701A>G	ENST00000262367.5	-	3	1687	c.878T>C	c.(877-879)gTg>gCg	p.V293A	CREBBP_ENST00000382070.3_Missense_Mutation_p.V293A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	293	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V293A(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGGGGGTTCACTCCAGTGGC	0.478			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	kidney(1)											154.0	141.0	145.0					16																	3860701		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.878T>C	16.37:g.3860701A>G	ENSP00000262367:p.Val293Ala		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641182	0.67244	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83837	-1.77;-1.7	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000008	D	0.82990	0.5157	L	0.40543	1.245	0.50313	D	0.999866	P;D	0.56746	0.787;0.977	B;P	0.56088	0.444;0.791	T	0.79186	-0.1907	10	0.11485	T	0.65	-15.5211	15.2145	0.73254	1.0:0.0:0.0:0.0	.	361;293	Q4LE28;Q92793	.;CBP_HUMAN	A	293;361;293	ENSP00000262367:V293A;ENSP00000371502:V293A	ENSP00000262367:V293A	V	-	2	0	CREBBP	3800702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.139000	0.77314	1.993000	0.58246	0.460000	0.39030	GTG		0.478	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380	
CRISPLD1	83690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	75937789	75937789	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr8:75937789G>C	ENST00000262207.4	+	13	1721	c.1253G>C	c.(1252-1254)tGt>tCt	p.C418S	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.C230S|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.C232S|RP11-300E4.2_ENST00000520778.1_RNA	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	418	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.C418S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AGAGTATACTGTCCTCGTAAC	0.299																																																	1	Substitution - Missense(1)	kidney(1)											77.0	68.0	71.0					8																	75937789		2203	4297	6500	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1253G>C	8.37:g.75937789G>C	ENSP00000262207:p.Cys418Ser		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718364	0.89205	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.99167	-5.51;-5.51;-5.51	5.54	5.54	0.83059	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	0.987;1.0	D;D	0.87578	0.985;0.998	D	0.97862	1.0281	10	0.87932	D	0	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	232;418	B7Z929;Q9H336	.;CRLD1_HUMAN	S	418;230;232	ENSP00000262207:C418S;ENSP00000430105:C230S;ENSP00000429746:C232S	ENSP00000262207:C418S	C	+	2	0	CRISPLD1	76100344	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.975000	0.93437	2.880000	0.98712	0.650000	0.86243	TGT		0.299	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1		NM_031461	
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	155219151	155219151	+	Silent	SNP	A	A	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr4:155219151A>T	ENST00000357232.4	-	18	4949	c.4950T>A	c.(4948-4950)ccT>ccA	p.P1650P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1650	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1650P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGCCAGATAGGGAAGTATT	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	71.0	71.0					4																	155219151		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4950T>A	4.37:g.155219151A>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552	
DNAJC6	9829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	65831861	65831861	+	Silent	SNP	T	T	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:65831861T>C	ENST00000395325.3	+	4	511	c.354T>C	c.(352-354)acT>acC	p.T118T	DNAJC6_ENST00000371069.4_Silent_p.T175T|DNAJC6_ENST00000263441.7_Silent_p.T105T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	118	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.T118T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTTATCGAACTGCCAAGTTTC	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											147.0	141.0	143.0					1																	65831861		2203	4300	6503	SO:0001819	synonymous_variant	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.354T>C	1.37:g.65831861T>C			B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	CCDS30739.1																																																																																				0.438	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			
EHF	26298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	34670585	34670585	+	Silent	SNP	G	G	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr11:34670585G>C	ENST00000533754.1	+	4	580	c.363G>C	c.(361-363)ctG>ctC	p.L121L	EHF_ENST00000257831.3_Silent_p.L121L|EHF_ENST00000531794.1_Silent_p.L143L|EHF_ENST00000450654.2_Silent_p.L121L|EHF_ENST00000530286.1_Silent_p.L121L					ets homologous factor									p.L121L(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GTAGTGACCTGTTCCAGTCCA	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											294.0	272.0	279.0					11																	34670585		2202	4298	6500	SO:0001819	synonymous_variant	26298			AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.363G>C	11.37:g.34670585G>C				Silent	SNP	ENST00000533754.1	37	CCDS7894.1																																																																																				0.512	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1		NM_012153	
EPHA5	2044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	66467834	66467834	+	Silent	SNP	C	C	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr4:66467834C>G	ENST00000273854.3	-	3	1035	c.435G>C	c.(433-435)ggG>ggC	p.G145G	EPHA5_ENST00000354839.4_Silent_p.G145G|EPHA5_ENST00000432638.2_Silent_p.G145G|EPHA5_ENST00000511294.1_Silent_p.G145G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	145	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.G145G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCTTACAGGTCCCCAGTCCTC	0.423										TSP Lung(17;0.13)																																							1	Substitution - coding silent(1)	kidney(1)											73.0	75.0	74.0					4																	66467834		2203	4300	6503	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.435G>C	4.37:g.66467834C>G			Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439	
FAM126A	84668	hgsc.bcm.edu;ucsc.edu	37	7	23000857	23000858	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr7:23000857_23000858delCA	ENST00000432176.2	-	9	1059_1060	c.827_828delTG	c.(826-828)ttgfs	p.L277fs	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Frame_Shift_Del_p.L277fs	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	277					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CACCTACCAGCAATGGCTCTGG	0.302																																																	0																																										SO:0001589	frameshift_variant	84668			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.827_828delTG	7.37:g.23000857_23000858delCA	ENSP00000403396:p.Leu277fs		A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Frame_Shift_Del	DEL	ENST00000432176.2	37	CCDS5377.1																																																																																				0.302	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1		NM_032581	
FLG	2312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152282336	152282336	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:152282336T>A	ENST00000368799.1	-	3	5061	c.5026A>T	c.(5026-5028)Agt>Tgt	p.S1676C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1676	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1676C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGGACTTGACCTTGCC	0.562									Ichthyosis																																								1	Substitution - Missense(1)	kidney(1)											327.0	327.0	327.0					1																	152282336		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5026A>T	1.37:g.152282336T>A	ENSP00000357789:p.Ser1676Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278291	0.23307	.	.	ENSG00000143631	ENST00000368799	T	0.09350	2.99	3.44	-0.399	0.12415	.	.	.	.	.	T	0.12008	0.0292	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.07404	-1.0774	9	0.66056	D	0.02	.	5.927	0.19118	0.0:0.3866:0.0:0.6134	.	1676	P20930	FILA_HUMAN	C	1676	ENSP00000357789:S1676C	ENSP00000357789:S1676C	S	-	1	0	FLG	150548960	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.179000	0.03090	-0.174000	0.10743	0.254000	0.18369	AGT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016	
GPR126	57211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	142741085	142741085	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:142741085A>T	ENST00000230173.6	+	22	3639	c.3163A>T	c.(3163-3165)Agc>Tgc	p.S1055C	GPR126_ENST00000367608.2_Missense_Mutation_p.S1027C|GPR126_ENST00000296932.8_Missense_Mutation_p.S1027C|GPR126_ENST00000367609.3_Missense_Mutation_p.S1055C	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1055					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)	p.S1026C(1)|p.S1055C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TGGCAAGAGAAGCAACCGGAC	0.468																																																	2	Substitution - Missense(2)	kidney(2)											299.0	289.0	292.0					6																	142741085		1968	4162	6130	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.3163A>T	6.37:g.142741085A>T	ENSP00000230173:p.Ser1055Cys		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319682	0.81469	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.77	4.62	0.57501	GPCR, family 2-like (1);	0.138486	0.51477	D	0.000081	T	0.54029	0.1833	M	0.76838	2.35	0.51233	D	0.999919	D;D;D;D;D	0.89917	0.991;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.95;0.971;0.971;0.983;0.99	T	0.61950	-0.6957	10	0.87932	D	0	.	11.6207	0.51115	0.9307:0.0:0.0693:0.0	.	115;1027;1055;1027;1055	B4DSK4;Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;.;GP126_HUMAN	C	1055;1027;1027;1055	ENSP00000230173:S1055C;ENSP00000356580:S1027C;ENSP00000296932:S1027C;ENSP00000356581:S1055C	ENSP00000230173:S1055C	S	+	1	0	GPR126	142782778	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	7.133000	0.77259	1.016000	0.39470	0.528000	0.53228	AGC		0.468	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			
GRID1	2894	broad.mit.edu;hgsc.bcm.edu	37	10	87966375	87966375	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr10:87966375G>A	ENST00000327946.7	-	3	351	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	89					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A89V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGTGACCAAGGCCAAAATCCC	0.592										Multiple Myeloma(13;0.14)																																							2	Substitution - Missense(2)	lung(1)|kidney(1)											82.0	55.0	64.0					10																	87966375		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.266C>T	10.37:g.87966375G>A	ENSP00000330148:p.Ala89Val		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545250	0.96488	.	.	ENSG00000182771	ENST00000327946	D	0.86956	-2.19	6.02	6.02	0.97574	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	M	0.68952	2.095	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.92455	0.5973	10	0.87932	D	0	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	89	Q9ULK0	GRID1_HUMAN	V	89	ENSP00000330148:A89V	ENSP00000330148:A89V	A	-	2	0	GRID1	87956355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GCC		0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		XM_043613	
GXYLT1	283464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	42503369	42503369	+	Splice_Site	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:42503369G>A	ENST00000398675.3	-	4	843	c.611C>T	c.(610-612)cCg>cTg	p.P204L	GXYLT1_ENST00000280876.6_Splice_Site_p.P173L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	204					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.P204L(1)|p.P173L(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AAAACTTACCGGCAAGAACAA	0.328																																																	2	Substitution - Missense(2)	kidney(2)											23.0	22.0	22.0					12																	42503369		1787	4045	5832	SO:0001630	splice_region_variant	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.612+1C>T	12.37:g.42503369G>A			B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486754	0.84854	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.26223	1.75;1.75	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.68432	-0.5410	10	0.59425	D	0.04	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	173;204	Q4G148-2;Q4G148	.;GXLT1_HUMAN	L	204;173	ENSP00000381666:P204L;ENSP00000280876:P173L	ENSP00000280876:P173L	P	-	2	0	GXYLT1	40789636	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	9.574000	0.98184	2.882000	0.98803	0.655000	0.94253	CCG		0.328	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1		XM_290597	Missense_Mutation
HAUS1	115106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	43700027	43700027	+	Splice_Site	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr18:43700027G>A	ENST00000282058.6	+	4	556		c.e4+1		RNU6-1278P_ENST00000516130.1_RNA|HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_Splice_Site	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GTCTACAAGAGTAAGTAATTG	0.294																																					NSCLC(79;183 1423 5813 15597 38427)												1	Unknown(1)	kidney(1)											32.0	34.0	33.0					18																	43700027		2195	4294	6489	SO:0001630	splice_region_variant	115106			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.476+1G>A	18.37:g.43700027G>A			B2RDM7|Q8N837	Splice_Site	SNP	ENST00000282058.6	37	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028749	0.54790	.	.	ENSG00000152240	ENST00000282058	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2665	0.66121	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HAUS1	41954025	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.190000	0.72057	2.414000	0.81942	0.462000	0.41574	.		0.294	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1		NM_138443	Intron
HCFC1	3054	broad.mit.edu;ucsc.edu	37	X	153215018	153215018	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chrX:153215018C>T	ENST00000310441.7	-	25	7020	c.6054G>A	c.(6052-6054)atG>atA	p.M2018I	HCFC1_ENST00000354233.3_Missense_Mutation_p.M1949I|HCFC1_ENST00000369984.4_Missense_Mutation_p.M2063I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	2018					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.M1921I(1)|p.M2018I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGAGGACATGGGCCGCT	0.552																																																	2	Substitution - Missense(2)	kidney(2)											105.0	104.0	104.0					X																	153215018		1978	4129	6107	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.6054G>A	X.37:g.153215018C>T	ENSP00000309555:p.Met2018Ile		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.277400|1.277400	0.23307|0.23307	.|.	.|.	ENSG00000172534|ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233|ENST00000444191	T;T;T|.	0.02682|.	4.2;4.2;4.2|.	5.43|5.43	4.51|4.51	0.55191|0.55191	.|.	0.292983|.	0.37437|.	N|.	0.002099|.	T|T	0.11281|0.11281	0.0275|0.0275	N|N	0.03608|0.03608	-0.345|-0.345	0.25276|0.25276	N|N	0.989478|0.989478	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.13953|0.13953	-1.0490|-1.0490	10|5	0.20046|.	T|.	0.44|.	.|.	3.238|3.238	0.06771|0.06771	0.1786:0.5563:0.1695:0.0956|0.1786:0.5563:0.1695:0.0956	.|.	2018|.	P51610|.	HCFC1_HUMAN|.	I|I	2018;2063;1949|594	ENSP00000309555:M2018I;ENSP00000359001:M2063I;ENSP00000346174:M1949I|.	ENSP00000309555:M2018I|.	M|V	-|-	3|1	0|0	HCFC1|HCFC1	152868212|152868212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.521000|1.521000	0.35910|0.35910	2.277000|2.277000	0.76020|0.76020	0.529000|0.529000	0.55759|0.55759	ATG|GTC		0.552	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334	
IGSF3	3321	broad.mit.edu	37	1	117131468	117131468	+	Missense_Mutation	SNP	C	C	T	rs200127721		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:117131468C>T	ENST00000369486.3	-	8	3053	c.2288G>A	c.(2287-2289)gGc>gAc	p.G763D	IGSF3_ENST00000318837.6_Missense_Mutation_p.G783D|IGSF3_ENST00000369483.1_Missense_Mutation_p.G783D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	763	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G763D(1)|p.G783D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCTGAACAGGCCCCCCGACAC	0.617																																																	2	Substitution - Missense(2)	kidney(2)											43.0	39.0	40.0					1																	117131468		2203	4296	6499	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2288G>A	1.37:g.117131468C>T	ENSP00000358498:p.Gly763Asp		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032490	0.35893	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.22743	1.94;1.94;1.94	3.87	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198206	0.45126	D	0.000400	T	0.08846	0.0219	N	0.11724	0.165	0.47905	D	0.999542	P;D;P	0.60160	0.835;0.987;0.863	P;P;P	0.60541	0.49;0.876;0.624	T	0.05115	-1.0905	10	0.02654	T	1	-33.5155	11.2061	0.48771	0.0:1.0:0.0:0.0	.	783;763;783	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	D	763;783;783	ENSP00000358498:G763D;ENSP00000358495:G783D;ENSP00000321184:G783D	ENSP00000321184:G783D	G	-	2	0	IGSF3	116932991	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	4.232000	0.58645	1.977000	0.57605	0.462000	0.41574	GGC		0.617	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1		NM_001542	
KIAA1033	23325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	105536914	105536914	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:105536914A>G	ENST00000332180.5	+	20	1990	c.1903A>G	c.(1903-1905)Agt>Ggt	p.S635G		NM_015275.1	NP_056090.1			KIAA1033									p.S635G(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTACATGTTCAGTGCTTTGCG	0.333																																																	1	Substitution - Missense(1)	kidney(1)											81.0	71.0	74.0					12																	105536914		1836	4091	5927	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1903A>G	12.37:g.105536914A>G	ENSP00000328062:p.Ser635Gly			Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003828	0.35320	.	.	ENSG00000136051	ENST00000332180	T	0.44482	0.92	5.8	4.64	0.57946	.	0.036749	0.85682	D	0.000000	T	0.26666	0.0652	N	0.16790	0.44	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04065	-1.0980	10	0.22706	T	0.39	.	12.3016	0.54878	0.873:0.0:0.0:0.127	.	636;635	B7ZKT9;Q2M389	.;WASH7_HUMAN	G	635	ENSP00000328062:S635G	ENSP00000328062:S635G	S	+	1	0	KIAA1033	104061044	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.340000	0.72973	0.998000	0.38996	-0.344000	0.07964	AGT		0.333	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4		NM_015275	
KIAA1875	340390	broad.mit.edu	37	8	145169270	145169270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr8:145169270delC	ENST00000323662.8	+	19	3709	c.3684delC	c.(3682-3684)atcfs	p.I1228fs				A6NE52	K1875_HUMAN	KIAA1875	1228										large_intestine(1)	1						GTGTGCACATCCTGCAGGTGC	0.642																																																	0																																										SO:0001589	frameshift_variant	340390			AB058778		8q24.3	2013-01-10			ENSG00000179698	ENSG00000179698		"""WD repeat domain containing"""	26959	protein-coding gene	gene with protein product						11347906	Standard	NR_024207		Approved		uc011lky.1	A6NE52	OTTHUMG00000165245	ENST00000323662.8:c.3684delC	8.37:g.145169270delC	ENSP00000320648:p.Ile1228fs		Q96JF2	Frame_Shift_Del	DEL	ENST00000323662.8	37																																																																																					0.642	KIAA1875-007	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382917.1		NM_032529	
KRT13	3860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39659631	39659631	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:39659631G>C	ENST00000246635.3	-	3	689	c.643C>G	c.(643-645)Ctg>Gtg	p.L215V	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.L215V|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.L215V	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	215	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.L215V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AGCTCATCCAGCACCCGGCGC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											90.0	89.0	90.0					17																	39659631		2203	4300	6503	SO:0001583	missense	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.643C>G	17.37:g.39659631G>C	ENSP00000246635:p.Leu215Val		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812970	0.70912	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.90133	-2.62;-2.62	4.4	4.4	0.53042	Filament (1);	0.000000	0.35525	N	0.003149	D	0.92077	0.7489	L	0.46885	1.475	0.47276	D	0.999379	D;D;D;D	0.61080	0.987;0.989;0.987;0.989	D;D;D;D	0.72075	0.976;0.976;0.96;0.976	D	0.91729	0.5395	10	0.87932	D	0	.	8.5787	0.33614	0.1706:0.0:0.8294:0.0	.	203;215;215;215	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	V	215;215;203	ENSP00000246635:L215V;ENSP00000336604:L215V	ENSP00000157775:L203V	L	-	1	2	KRT13	36913157	0.944000	0.32072	1.000000	0.80357	0.963000	0.63663	1.383000	0.34385	2.444000	0.82710	0.561000	0.74099	CTG		0.493	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1		NM_153490	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619181	1619181	+	Silent	SNP	G	G	A	rs61869704|rs59506446		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr11:1619181G>A	ENST00000412090.1	-	1	343	c.300C>T	c.(298-300)tcC>tcT	p.S100S	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	100	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.662																																																	0																																										SO:0001819	synonymous_variant	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.300C>T	11.37:g.1619181G>A			A9JTZ1	Silent	SNP	ENST00000412090.1	37	CCDS31331.1																																																																																				0.662	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1		NM_001004325	
LETMD1	25875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51449626	51449626	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:51449626T>G	ENST00000262055.4	+	5	521	c.482T>G	c.(481-483)tTt>tGt	p.F161C	LETMD1_ENST00000552739.1_Missense_Mutation_p.F44C|LETMD1_ENST00000550929.1_Missense_Mutation_p.F105C|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000418425.2_Missense_Mutation_p.F174C|LETMD1_ENST00000380123.2_Missense_Mutation_p.F95V|LETMD1_ENST00000548516.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	161	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.F161C(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						AGGTACCTGTTTCCCAGGCAA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											92.0	88.0	89.0					12																	51449626		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.482T>G	12.37:g.51449626T>G	ENSP00000262055:p.Phe161Cys		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.93|17.93	3.510098|3.510098	0.64522|0.64522	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000418425;ENST00000448283;ENST00000552739|ENST00000380123	T;T;T;T;T;T|T	0.57595|0.44482	0.39;0.39;0.39;0.39;0.39;0.39|0.92	5.08|5.08	3.86|3.86	0.44501|0.44501	LETM1-like (1);|.	0.052665|0.052665	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.47414|0.47414	0.1444|0.1444	M|M	0.61703|0.61703	1.905|1.905	0.27486|0.27486	N|N	0.952436|0.952436	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.72982|.	0.977;0.979;0.976;0.979|.	T|T	0.38351|0.38351	-0.9665|-0.9665	10|8	0.87932|0.34782	D|T	0|0.22	-16.4859|-16.4859	10.9973|10.9973	0.47585|0.47585	0.1401:0.0:0.0:0.8599|0.1401:0.0:0.0:0.8599	.|.	111;174;44;161|.	F8VVQ3;B3KXK7;F8VP71;Q6P1Q0|.	.;.;.;LTMD1_HUMAN|.	C|V	128;67;105;161;111;174;111;44|95	ENSP00000446862:F128C;ENSP00000450163:F105C;ENSP00000262055:F161C;ENSP00000449896:F111C;ENSP00000389903:F174C;ENSP00000450333:F44C|ENSP00000369466:F95V	ENSP00000262055:F161C|ENSP00000369466:F95V	F|F	+|+	2|1	0|0	LETMD1|LETMD1	49735893|49735893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.243000|4.243000	0.58721|0.58721	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	TTT|TTC		0.423	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1		NM_015416	
RP11-403I13.8	0	broad.mit.edu	37	1	149287048	149287049	+	lincRNA	INS	-	-	A	rs78792181|rs386354281	byFrequency	TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:149287048_149287049insA	ENST00000433084.1	+	0	0				RNU1-143P_ENST00000516296.1_RNA|RP11-403I13.7_ENST00000424684.1_lincRNA																							TAGTTATTCACAGCTCAGCCCG	0.619													a|A|AA|insertion	2307	0.460663	0.4675	0.4496	5008	,	,		48559	0.4633		0.4533	False		,,,				2504	0.4642																0																																												388692																															1.37:g.149287049_149287049dupA				RNA	INS	ENST00000433084.1	37																																																																																					0.619	RP11-403I13.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099633.1			
LRP6	4040	hgsc.bcm.edu;ucsc.edu	37	12	12315207	12315207	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:12315207delC	ENST00000261349.4	-	10	2275	c.2199delG	c.(2197-2199)aagfs	p.K733fs	LRP6_ENST00000543091.1_Frame_Shift_Del_p.K733fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	733	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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 transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCCCATCCAACTTTGACACCT	0.498																																																	0													228.0	188.0	202.0					12																	12315207		2203	4300	6503	SO:0001589	frameshift_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2199delG	12.37:g.12315207delC	ENSP00000261349:p.Lys733fs		Q17RZ2	Frame_Shift_Del	DEL	ENST00000261349.4	37	CCDS8647.1																																																																																				0.498	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			
LSM12	124801	broad.mit.edu;hgsc.bcm.edu	37	17	42141197	42141197	+	Missense_Mutation	SNP	G	G	T	rs17854322		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:42141197G>T	ENST00000591247.1	-	3	552	c.230C>A	c.(229-231)cCt>cAt	p.P77H	LSM12_ENST00000585388.1_Missense_Mutation_p.P77H|LSM12_ENST00000293406.3_Missense_Mutation_p.P77H	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	77			P -> R (in dbSNP:rs17854322). {ECO:0000269|PubMed:15489334}.					p.P77H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCTAGGGGAGGAGGGGTTTC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											89.0	78.0	82.0					17																	42141197		2203	4300	6503	SO:0001583	missense	124801			BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.230C>A	17.37:g.42141197G>T	ENSP00000466718:p.Pro77His		Q86YB1|Q96NL5	Missense_Mutation	SNP	ENST00000591247.1	37	CCDS11475.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860946	0.71949	.	.	ENSG00000161654	ENST00000293406	T	0.34859	1.34	5.86	3.89	0.44902	.	0.108957	0.64402	D	0.000004	T	0.53546	0.1803	M	0.64997	1.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.50890	-0.8774	10	0.48119	T	0.1	-0.1625	10.2004	0.43080	0.1561:0.0:0.8439:0.0	.	77	Q3MHD2	LSM12_HUMAN	H	77	ENSP00000293406:P77H	ENSP00000293406:P77H	P	-	2	0	LSM12	39496723	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.724000	0.98775	0.832000	0.34804	-0.218000	0.12543	CCT		0.438	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457672.1		NM_152344	
MAP3K6	9064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27684801	27684801	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:27684801G>A	ENST00000493901.1	-	22	3025	c.2786C>T	c.(2785-2787)tCt>tTt	p.S929F	MAP3K6_ENST00000374040.3_Missense_Mutation_p.S921F|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S929F	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	929					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.S921F(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACTGGCAGAAGGGGCATC	0.652											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											78.0	89.0	85.0					1																	27684801		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2786C>T	1.37:g.27684801G>A	ENSP00000419591:p.Ser929Phe	796	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	5.106	0.205184	0.09704	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.26373	1.74;1.74;1.74	4.82	4.82	0.62117	Protein kinase-like domain (1);	.	.	.	.	T	0.21674	0.0522	N	0.24115	0.695	0.09310	N	1	P;P	0.44195	0.828;0.736	B;B	0.42593	0.392;0.219	T	0.09840	-1.0656	9	0.59425	D	0.04	.	13.2718	0.60165	0.0:0.0:1.0:0.0	.	921;929	O95382-3;O95382	.;M3K6_HUMAN	F	921;929;652;929	ENSP00000363152:S921F;ENSP00000419591:S929F;ENSP00000350195:S929F	ENSP00000350195:S929F	S	-	2	0	MAP3K6	27557388	0.920000	0.31207	0.089000	0.20774	0.441000	0.31987	2.931000	0.48932	2.525000	0.85131	0.650000	0.86243	TCT		0.652	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2		NM_004672	
MAST4	375449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66459285	66459285	+	Silent	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr5:66459285C>T	ENST00000403625.2	+	29	4573	c.4278C>T	c.(4276-4278)caC>caT	p.H1426H	MAST4_ENST00000405643.1_Silent_p.H1247H|MAST4_ENST00000261569.7_Silent_p.H1232H|MAST4_ENST00000403666.1_Silent_p.H1237H|MAST4_ENST00000404260.3_Silent_p.H1429H	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1429						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.H1429H(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCGTCAGACACATCGTGAGGC	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											24.0	30.0	28.0					5																	66459285		2054	4205	6259	SO:0001819	synonymous_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4278C>T	5.37:g.66459285C>T			A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	8.508	0.865783	0.17250	.	.	ENSG00000069020	ENST00000443808	T	0.33654	1.4	5.92	1.51	0.23008	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	.	.	.	0.43574	D	0.995908	.	.	.	.	.	.	T	0.31971	-0.9924	7	0.87932	D	0	-21.0601	6.7847	0.23668	0.0:0.5632:0.1345:0.3024	.	.	.	.	Y	483	ENSP00000400551:H483Y	ENSP00000400551:H483Y	H	+	1	0	MAST4	66495041	0.613000	0.27009	0.851000	0.33527	0.997000	0.91878	-0.009000	0.12765	0.375000	0.24679	0.655000	0.94253	CAT		0.622	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			
MEGF10	84466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	126776499	126776499	+	Missense_Mutation	SNP	G	G	A	rs373093349		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr5:126776499G>A	ENST00000274473.6	+	19	2569	c.2302G>A	c.(2302-2304)Gac>Aac	p.D768N	MEGF10_ENST00000503335.2_Missense_Mutation_p.D768N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	768	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.D768N(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTGACTGCGACCACATTTC	0.493																																																	1	Substitution - Missense(1)	kidney(1)						G	ASN/ASP	0,4406		0,0,2203	158.0	141.0	146.0		2302	5.2	1.0	5		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF10	NM_032446.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	768/1141	126776499	1,13005	2203	4300	6503	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2302G>A	5.37:g.126776499G>A	ENSP00000274473:p.Asp768Asn		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602300	0.87055	0.0	1.16E-4	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.15603	2.41;2.41	6.03	5.15	0.70609	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.065696	0.64402	D	0.000013	T	0.24967	0.0606	L	0.49126	1.545	0.53005	D	0.999967	P	0.41498	0.752	P	0.47102	0.537	T	0.01574	-1.1321	10	0.22109	T	0.4	-31.9528	16.4878	0.84189	0.0:0.0:0.8679:0.1321	.	768	Q96KG7	MEG10_HUMAN	N	768	ENSP00000423354:D768N;ENSP00000274473:D768N	ENSP00000274473:D768N	D	+	1	0	MEGF10	126804398	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	7.984000	0.88150	1.520000	0.48965	0.557000	0.71058	GAC		0.493	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446	
MEGF8	1954	broad.mit.edu	37	19	42860310	42860310	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr19:42860310G>T	ENST00000251268.6	+	25	4468	c.4468G>T	c.(4468-4470)Gtc>Ttc	p.V1490F	MEGF8_ENST00000334370.4_Missense_Mutation_p.V1423F	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1490					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.V1423F(1)|p.V1490F(1)|p.V1031F(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGGCAGCTGGTCTGGGAGAC	0.652																																																	3	Substitution - Missense(3)	kidney(3)											27.0	27.0	27.0					19																	42860310		2194	4281	6475	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4468G>T	19.37:g.42860310G>T	ENSP00000251268:p.Val1490Phe		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.039719	0.75732	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.23754	1.89;1.89	4.72	4.72	0.59763	.	0.087380	0.44097	D	0.000493	T	0.45895	0.1365	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.78314	0.959;0.991	T	0.23368	-1.0190	10	0.36615	T	0.2	-27.4129	16.624	0.84937	0.0:0.0:1.0:0.0	.	1490;1423	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	F	1423;1490	ENSP00000334219:V1423F;ENSP00000251268:V1490F	ENSP00000251268:V1490F	V	+	1	0	MEGF8	47552150	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.615000	0.61190	2.468000	0.83385	0.563000	0.77884	GTC		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410	
MUC4	4585	broad.mit.edu	37	3	195506627	195506627	+	Missense_Mutation	SNP	T	T	G	rs145875920	byFrequency	TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr3:195506627T>G	ENST00000463781.3	-	2	12283	c.11824A>C	c.(11824-11826)Act>Cct	p.T3942P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3942P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T3942P(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGCTGGTGACA	0.582													.|||	144	0.028754	0.0658	0.0115	5008	,	,		10596	0.0179		0.0189	False		,,,				2504	0.0123																2	Substitution - Missense(2)	kidney(2)											16.0	15.0	15.0					3																	195506627		575	1239	1814	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11824A>C	3.37:g.195506627T>G	ENSP00000417498:p.Thr3942Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	418	0.19139194139194138	95	0.19308943089430894	73	0.20165745856353592	134	0.23426573426573427	116	0.15303430079155672	N	5.184	0.219525	0.09863	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35048	1.33;1.42	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.19945	N	0.999946	B	0.25521	0.128	B	0.28638	0.092	T	0.36456	-0.9747	7	.	.	.	.	2.6735	0.05075	0.0:0.409:0.0:0.591	.	3814	E7ESK3	.	P	3942	ENSP00000417498:T3942P;ENSP00000420243:T3942P	.	T	-	1	0	MUC4	196991406	0.000000	0.05858	0.044000	0.18714	0.027000	0.11550	-2.555000	0.00925	0.348000	0.23949	0.055000	0.15244	ACT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYADM	91663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54377173	54377173	+	Silent	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr19:54377173C>T	ENST00000391769.2	+	3	670	c.390C>T	c.(388-390)caC>caT	p.H130H	MYADM_ENST00000391768.2_Silent_p.H130H|MYADM_ENST00000336967.3_Silent_p.H130H|MYADM_ENST00000391771.1_Silent_p.H130H|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391770.4_Silent_p.H130H	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	130	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.H130H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCCTGTCCCACGGCCGTTCGC	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	85.0	86.0					19																	54377173		2203	4300	6503	SO:0001819	synonymous_variant	91663			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.390C>T	19.37:g.54377173C>T			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	CCDS12866.1																																																																																				0.667	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1		NM_138373	
MYO16	23026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	109859148	109859148	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr13:109859148C>A	ENST00000357550.2	+	34	5582	c.5541C>A	c.(5539-5541)aaC>aaA	p.N1847K	MYO16_ENST00000356711.2_Missense_Mutation_p.N1847K	NM_001198950.1	NP_001185879.1			myosin XVI									p.N1847K(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTCCTGCAACAGGCTGCCGT	0.577																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											33.0	32.0	32.0					13																	109859148		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5541C>A	13.37:g.109859148C>A	ENSP00000350160:p.Asn1847Lys			Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252474	0.22880	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.80123	-1.34;-1.34	5.05	0.662	0.17880	.	0.589703	0.13394	U	0.391140	T	0.68851	0.3046	L	0.36672	1.1	0.09310	N	1	B	0.19331	0.035	B	0.14578	0.011	T	0.52571	-0.8558	9	.	.	.	.	10.2033	0.43099	0.0:0.687:0.0:0.313	.	1847	Q9Y6X6	MYO16_HUMAN	K	1847	ENSP00000349145:N1847K;ENSP00000350160:N1847K	.	N	+	3	2	MYO16	108657149	0.196000	0.23350	0.003000	0.11579	0.799000	0.45148	0.159000	0.16442	0.152000	0.19188	0.563000	0.77884	AAC		0.577	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011	
NANS	54187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100843297	100843297	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr9:100843297T>C	ENST00000210444.5	+	5	873	c.803T>C	c.(802-804)cTt>cCt	p.L268P	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	268					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)	p.L268P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCAGTGCGTCTTGTGGAGCGT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											87.0	79.0	82.0					9																	100843297		2203	4300	6503	SO:0001583	missense	54187			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.803T>C	9.37:g.100843297T>C	ENSP00000210444:p.Leu268Pro		B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618765	0.46736	.	.	ENSG00000095380	ENST00000210444;ENST00000415280;ENST00000427646	T;T;T	0.42513	0.97;0.97;0.97	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.185164	0.47455	D	0.000231	T	0.51924	0.1703	L	0.52011	1.625	0.80722	D	1	P;P	0.52316	0.952;0.507	P;B	0.57846	0.828;0.251	T	0.44314	-0.9336	10	0.29301	T	0.29	-19.0888	13.4897	0.61388	0.0:0.0:0.0:1.0	.	104;268	E9PGK0;Q9NR45	.;SIAS_HUMAN	P	268;127;76	ENSP00000210444:L268P;ENSP00000404107:L127P;ENSP00000404642:L76P	ENSP00000210444:L268P	L	+	2	0	NANS	99883118	0.896000	0.30565	0.930000	0.37139	0.227000	0.25037	2.892000	0.48625	2.148000	0.66965	0.454000	0.30748	CTT		0.607	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1		NM_018946	
NAV3	89795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	78516003	78516003	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:78516003G>A	ENST00000397909.2	+	16	4206	c.4033G>A	c.(4033-4035)Gtg>Atg	p.V1345M	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.V1345M|NAV3_ENST00000228327.6_Missense_Mutation_p.V1345M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1345	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.V1345M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGTGGTCTCGTGTGGGCTGC	0.507										HNSCC(70;0.22)																																							1	Substitution - Missense(1)	kidney(1)											92.0	90.0	90.0					12																	78516003		2029	4189	6218	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4033G>A	12.37:g.78516003G>A	ENSP00000381007:p.Val1345Met		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	19.17	3.775461	0.70107	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.26518	1.73;1.73;1.73	5.96	5.96	0.96718	.	0.000000	0.36167	U	0.002754	T	0.40498	0.1119	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.58660	0.815;0.781;0.843	T	0.06023	-1.0850	10	0.59425	D	0.04	-15.1705	20.4082	0.99013	0.0:0.0:1.0:0.0	.	1345;1345;1345	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	1345	ENSP00000446132:V1345M;ENSP00000381007:V1345M;ENSP00000228327:V1345M	ENSP00000228327:V1345M	V	+	1	0	NAV3	77040134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.773000	0.75006	2.814000	0.96858	0.655000	0.94253	GTG		0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383	
NBPF12	149013	broad.mit.edu	37	1	146420167	146420167	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:146420167G>A	ENST00000446080.2	+	0	144				NBPF12_ENST00000442909.2_Missense_Mutation_p.V974I|NBPF12_ENST00000309471.8_Missense_Mutation_p.V593I|NBPF12_ENST00000446760.2_Missense_Mutation_p.V641I			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12							cytoplasm (GO:0005737)		p.V974I(1)|p.V641I(1)		ovary(2)	2						GCAACAGCGTGTTGGCTTGGC	0.463																																																	2	Substitution - Missense(2)	kidney(2)																																										100132406			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000446080.2:c.-18G>A	1.37:g.146420167G>A			O95877	Missense_Mutation	SNP	ENST00000446080.2	37		.	.	.	.	.	.	.	.	.	.	-	2.539	-0.306804	0.05458	.	.	ENSG00000186275	ENST00000446760;ENST00000442909;ENST00000309471	T;T;T	0.14516	2.5;2.5;2.5	0.726	-0.569	0.11756	.	.	.	.	.	T	0.04543	0.0124	L	0.48642	1.525	0.09310	N	1	.	.	.	.	.	.	T	0.42120	-0.9470	7	0.32370	T	0.25	.	4.4169	0.11461	0.0:0.4238:0.5762:0.0	.	.	.	.	I	641;974;593	ENSP00000396525:V641I;ENSP00000391116:V974I;ENSP00000311131:V593I	ENSP00000311131:V593I	V	+	1	0	NBPF12	144750371	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.418000	0.07080	-0.180000	0.10637	0.385000	0.25706	GTT		0.463	NBPF12-206	KNOWN	basic	protein_coding	protein_coding			XM_003119146	
OPCML	4978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	132527098	132527098	+	Missense_Mutation	SNP	G	G	A	rs137852691		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr11:132527098G>A	ENST00000331898.7	-	2	862	c.284C>T	c.(283-285)cCa>cTa	p.P95L	OPCML_ENST00000374778.4_Missense_Mutation_p.P54L|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.P95L|OPCML_ENST00000524381.1_Missense_Mutation_p.P88L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	95	Ig-like C2-type 1.		P -> R (in ovarian cancer; somatic mutation). {ECO:0000269|PubMed:12819783}.		cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.P95L(1)|p.P88L(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTACTGGGTTGGTGTATTGAC	0.532																																																	2	Substitution - Missense(2)	kidney(2)											243.0	181.0	202.0					11																	132527098		2201	4297	6498	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.284C>T	11.37:g.132527098G>A	ENSP00000330862:p.Pro95Leu		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538339	0.45176	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.83	4.85	0.62838	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.413025	0.26574	N	0.023604	T	0.24392	0.0591	L	0.50333	1.59	0.36688	D	0.879427	B;B;B;B	0.13145	0.001;0.007;0.001;0.001	B;B;B;B	0.15870	0.014;0.009;0.014;0.014	T	0.09818	-1.0657	10	0.46703	T	0.11	-9.5672	11.5071	0.50472	0.0:0.0:0.6129:0.3871	.	95;88;95;95	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	95;88;54;95	ENSP00000330862:P95L;ENSP00000434750:P88L;ENSP00000363910:P54L;ENSP00000445496:P95L	ENSP00000330862:P95L	P	-	2	0	OPCML	132032308	0.995000	0.38212	0.963000	0.40424	0.995000	0.86356	3.790000	0.55461	2.762000	0.94881	0.655000	0.94253	CCA		0.532	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3		NM_001012393	
PARD3	56288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	34626340	34626340	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr10:34626340T>G	ENST00000374789.3	-	17	2757	c.2432A>C	c.(2431-2433)gAt>gCt	p.D811A	PARD3_ENST00000545693.1_Missense_Mutation_p.D795A|PARD3_ENST00000340077.5_Missense_Mutation_p.D808A|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000374776.1_Missense_Mutation_p.D795A|PARD3_ENST00000374794.3_Missense_Mutation_p.D751A|PARD3_ENST00000374790.3_Missense_Mutation_p.D751A|PARD3_ENST00000374788.3_Missense_Mutation_p.D808A|PARD3_ENST00000350537.4_Missense_Mutation_p.D795A|PARD3_ENST00000374773.1_Missense_Mutation_p.D808A|PARD3_ENST00000544292.1_Missense_Mutation_p.D525A|PARD3_ENST00000545260.1_Missense_Mutation_p.D751A|PARD3_ENST00000346874.4_Missense_Mutation_p.D811A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	811	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D811A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGGATCAACATCTGGACTCAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											72.0	65.0	67.0					10																	34626340		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2432A>C	10.37:g.34626340T>G	ENSP00000363921:p.Asp811Ala		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628631	0.67015	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.20463	2.41;2.52;2.48;2.44;2.54;2.52;2.51;2.41;2.12;2.07;2.2;2.12	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D;D;B;P;D;P;D;P;P;P	0.89917	0.991;0.999;0.999;1.0;0.999;0.97;1.0;0.402;0.945;0.998;0.901;0.982;0.73;0.753;0.936	D;D;D;D;D;P;D;B;P;D;P;P;P;B;P	0.91635	0.954;0.995;0.999;0.999;0.999;0.729;0.999;0.235;0.695;0.975;0.546;0.891;0.492;0.406;0.693	T	0.12578	-1.0542	10	0.08179	T	0.78	.	15.9555	0.79884	0.0:0.0:0.0:1.0	.	751;751;795;795;795;811;808;811;751;795;808;808;795;808;525	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	A	795;751;811;808;811;751;795;751;795;808;808;525	ENSP00000443147:D795A;ENSP00000440857:D751A;ENSP00000363921:D811A;ENSP00000363920:D808A;ENSP00000340591:D811A;ENSP00000363926:D751A;ENSP00000311986:D795A;ENSP00000363922:D751A;ENSP00000363908:D795A;ENSP00000341844:D808A;ENSP00000363905:D808A;ENSP00000444429:D525A	ENSP00000341844:D808A	D	-	2	0	PARD3	34666346	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.655000	0.83696	2.227000	0.72691	0.459000	0.35465	GAT		0.368	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		NM_019619	
PCNXL3	399909	broad.mit.edu;ucsc.edu	37	11	65391403	65391403	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr11:65391403G>A	ENST00000355703.3	+	13	3054	c.2515G>A	c.(2515-2517)Gtg>Atg	p.V839M		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	839						integral component of membrane (GO:0016021)		p.V720M(2)|p.V839M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTTCCAGAGCGTGCAGCCTGA	0.652																																																	3	Substitution - Missense(3)	kidney(3)											56.0	64.0	61.0					11																	65391403		2059	4190	6249	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2515G>A	11.37:g.65391403G>A	ENSP00000347931:p.Val839Met		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567717	0.65651	.	.	ENSG00000197136	ENST00000355703	T	0.75938	-0.98	4.82	4.82	0.62117	.	.	.	.	.	D	0.85847	0.5792	M	0.82323	2.585	0.44890	D	0.997905	D	0.71674	0.998	D	0.70935	0.971	D	0.87873	0.2672	9	0.72032	D	0.01	.	13.3753	0.60734	0.0:0.0:1.0:0.0	.	839	Q9H6A9	PCX3_HUMAN	M	839	ENSP00000347931:V839M	ENSP00000347931:V839M	V	+	1	0	PCNXL3	65147979	1.000000	0.71417	0.980000	0.43619	0.151000	0.21798	6.741000	0.74837	2.236000	0.73375	0.462000	0.41574	GTG		0.652	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223	
PMPCA	23203	broad.mit.edu	37	9	139305134	139305134	+	Missense_Mutation	SNP	T	T	C	rs561383356		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr9:139305134T>C	ENST00000371717.3	+	1	23	c.14T>C	c.(13-15)gTg>gCg	p.V5A	SDCCAG3_ENST00000298537.7_5'Flank|SDCCAG3_ENST00000357365.3_5'Flank|PMPCA_ENST00000371720.1_Missense_Mutation_p.V5A|SDCCAG3_ENST00000371725.3_5'Flank|PMPCA_ENST00000399219.3_5'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	5					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V5A(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCGGCTGTGGTGCTGGCGGCG	0.721													T|||	1	0.000199681	0.0	0.0	5008	,	,		9274	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											30.0	32.0	32.0					9																	139305134		2192	4293	6485	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.14T>C	9.37:g.139305134T>C	ENSP00000360782:p.Val5Ala		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063804	0.36373	.	.	ENSG00000165688	ENST00000371720;ENST00000371717	T	0.12361	2.69	3.88	3.88	0.44766	.	1.003840	0.08031	N	0.993508	T	0.09598	0.0236	N	0.19112	0.55	0.46654	D	0.999149	P;B	0.36027	0.533;0.39	B;B	0.33846	0.171;0.074	T	0.19289	-1.0310	10	0.26408	T	0.33	.	9.3787	0.38299	0.0:0.0:0.0:1.0	.	5;5	B4DRK5;Q10713	.;MPPA_HUMAN	A	5	ENSP00000360782:V5A	ENSP00000360782:V5A	V	+	2	0	PMPCA	138424955	0.073000	0.21202	0.006000	0.13384	0.341000	0.28922	0.938000	0.28965	1.511000	0.48818	0.533000	0.62120	GTG		0.721	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1		NM_015160	
POLG	5428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89864148	89864148	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr15:89864148C>G	ENST00000268124.5	-	18	3163	c.2830G>C	c.(2830-2832)Gag>Cag	p.E944Q	POLG_ENST00000442287.2_Missense_Mutation_p.E944Q	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	944					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.E944Q(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTGGCATGCTCACGGCTGATG	0.557								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												1	Substitution - Missense(1)	kidney(1)											116.0	92.0	100.0					15																	89864148		2200	4299	6499	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2830G>C	15.37:g.89864148C>G	ENSP00000268124:p.Glu944Gln		Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814546	0.90790	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98329	-4.87;-4.87	5.15	5.15	0.70609	DNA-directed DNA polymerase, family A, palm domain (2);DNA-directed DNA polymerase, family A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99910	1.1195	10	0.72032	D	0.01	-26.7464	18.6114	0.91286	0.0:1.0:0.0:0.0	.	944	P54098	DPOG1_HUMAN	Q	944	ENSP00000268124:E944Q;ENSP00000399851:E944Q	ENSP00000268124:E944Q	E	-	1	0	POLG	87665152	1.000000	0.71417	0.926000	0.36857	0.950000	0.60333	7.487000	0.81328	2.401000	0.81631	0.591000	0.81541	GAG		0.557	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2		NM_002693	
PROS1	5627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	93624946	93624946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr3:93624946C>A	ENST00000394236.3	-	5	704	c.388G>T	c.(388-390)Gga>Tga	p.G130*	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	130	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.G130*(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTCATATATCCATCTTCATTG	0.373																																																	1	Substitution - Nonsense(1)	kidney(1)											113.0	118.0	116.0					3																	93624946		2203	4300	6503	SO:0001587	stop_gained	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.388G>T	3.37:g.93624946C>A	ENSP00000377783:p.Gly130*		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	37	6.414701	0.97546	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	.	.	.	4.44	4.44	0.53790	.	0.057732	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2572	0.87060	0.0:1.0:0.0:0.0	.	.	.	.	X	130;162	.	ENSP00000330021:G162X	G	-	1	0	PROS1	95107636	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	5.659000	0.68010	2.314000	0.78098	0.484000	0.47621	GGA		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1		NM_000313	
RAI14	26064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	34823798	34823798	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr5:34823798T>G	ENST00000265109.3	+	15	2138	c.1851T>G	c.(1849-1851)agT>agG	p.S617R	RAI14_ENST00000506376.1_Missense_Mutation_p.S609R|RAI14_ENST00000428746.2_Missense_Mutation_p.S617R|RAI14_ENST00000503673.1_Missense_Mutation_p.S617R|RAI14_ENST00000512629.1_Missense_Mutation_p.S588R|RAI14_ENST00000515799.1_Missense_Mutation_p.S620R|RAI14_ENST00000397449.1_Missense_Mutation_p.S610R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	617						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S617R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CACTAAAAAGTCAGATGACAC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											57.0	61.0	59.0					5																	34823798		2203	4300	6503	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1851T>G	5.37:g.34823798T>G	ENSP00000265109:p.Ser617Arg		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796196	0.31777	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37752	1.22;1.18;1.22;1.22;1.21;1.26;1.25	5.68	3.31	0.37934	.	.	.	.	.	T	0.27697	0.0681	L	0.29908	0.895	0.36752	D	0.882807	P;B;P;B	0.42620	0.573;0.437;0.785;0.437	B;B;B;B	0.41860	0.153;0.073;0.368;0.073	T	0.17471	-1.0368	9	0.56958	D	0.05	-1.4736	8.8895	0.35425	0.0:0.2111:0.0:0.7889	.	609;588;620;617	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	617;588;617;617;620;609;610	ENSP00000265109:S617R;ENSP00000422377:S588R;ENSP00000388725:S617R;ENSP00000422942:S617R;ENSP00000427123:S620R;ENSP00000423854:S609R;ENSP00000380591:S610R	ENSP00000265109:S617R	S	+	3	2	RAI14	34859555	1.000000	0.71417	0.757000	0.31301	0.934000	0.57294	1.989000	0.40707	0.446000	0.26666	0.454000	0.30748	AGT		0.383	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		NM_015577	
RPF1	80135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84945169	84945169	+	Silent	SNP	C	C	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:84945169C>A	ENST00000370654.5	+	1	220	c.205C>A	c.(205-207)Cgg>Agg	p.R69R	RPF1_ENST00000370656.1_Silent_p.R69R	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	69					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.R69R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AATGTTCACGCGGTGGAAACA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											26.0	31.0	30.0					1																	84945169		2203	4299	6502	SO:0001819	synonymous_variant	80135			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.205C>A	1.37:g.84945169C>A			Q5VSK7|Q6AHX1|Q8WXZ8	Silent	SNP	ENST00000370654.5	37	CCDS695.1																																																																																				0.612	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1		NM_025065	
SERPINA3	12	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	95081158	95081158	+	Missense_Mutation	SNP	A	A	G	rs145819878		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr14:95081158A>G	ENST00000467132.1	+	2	1528	c.380A>G	c.(379-381)aAt>aGt	p.N127S	SERPINA3_ENST00000482740.1_5'Flank|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.N127S|SERPINA3_ENST00000393080.4_Missense_Mutation_p.N127S			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	127					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.N127S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CGCACCCTCAATCAGTCCAGC	0.532																																																	1	Substitution - Missense(1)	kidney(1)						A	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	62.0	60.0	60.0		380	-8.5	0.0	14	dbSNP_134	60	0,8600		0,0,4300	no	missense	SERPINA3	NM_001085.4	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	127/424	95081158	1,13005	2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.380A>G	14.37:g.95081158A>G	ENSP00000450540:p.Asn127Ser		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	A	1.731	-0.494252	0.04322	2.27E-4	0.0	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.03	-8.52	0.00920	Serpin domain (3);	0.584460	0.17941	N	0.156829	T	0.66025	0.2748	N	0.20357	0.565	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.005	T	0.54403	-0.8299	10	0.11794	T	0.64	.	12.1323	0.53950	0.7108:0.0:0.2014:0.0878	.	127;152	P01011;G3V5I3	AACT_HUMAN;.	S	152;127;127;127;127	ENSP00000452367:N152S;ENSP00000376793:N127S;ENSP00000376795:N127S;ENSP00000450540:N127S	ENSP00000376793:N127S	N	+	2	0	SERPINA3	94150911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.007000	0.13174	-1.653000	0.01500	-1.288000	0.01363	AAT		0.532	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3		NM_001085	
SHANK1	50944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51219979	51219979	+	Silent	SNP	G	G	A	rs545121253		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr19:51219979G>A	ENST00000293441.1	-	1	216	c.198C>T	c.(196-198)gaC>gaT	p.D66D	SHANK1_ENST00000359082.3_Silent_p.D66D|SHANK1_ENST00000391814.1_Silent_p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	66					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.D66D(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTGGGCGTCGTCTGGGACGG	0.672																																																	2	Substitution - coding silent(2)	prostate(1)|kidney(1)											81.0	68.0	72.0					19																	51219979		2203	4300	6503	SO:0001819	synonymous_variant	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.198C>T	19.37:g.51219979G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																				0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148	
SLC36A1	206358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150843145	150843145	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr5:150843145G>T	ENST00000243389.3	+	3	398	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000520701.1_Missense_Mutation_p.G59C|SLC36A1_ENST00000429484.2_Missense_Mutation_p.G59C|SLC36A1_ENST00000521925.1_Missense_Mutation_p.G59C	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	59					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.G59C(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCTGTTAAAAGGCAACATTGG	0.463																																					Melanoma(151;1534 1860 12947 32979 37872)												1	Substitution - Missense(1)	kidney(1)											128.0	113.0	118.0					5																	150843145		2203	4300	6503	SO:0001583	missense	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.175G>T	5.37:g.150843145G>T	ENSP00000243389:p.Gly59Cys		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406551	0.83230	.	.	ENSG00000123643	ENST00000520111;ENST00000520701;ENST00000429484;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517945;ENST00000519829	T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31	6.08	4.32	0.51571	.	0.094778	0.64402	D	0.000001	T	0.08714	0.0216	M	0.65320	2	0.80722	D	1	B;B	0.33964	0.434;0.055	P;B	0.47134	0.539;0.167	T	0.05699	-1.0869	10	0.45353	T	0.12	.	12.982	0.58570	0.13:0.0:0.87:0.0	.	59;59	E7EW39;Q7Z2H8	.;S36A1_HUMAN	C	59	ENSP00000429796:G59C;ENSP00000428140:G59C;ENSP00000395640:G59C;ENSP00000243389:G59C;ENSP00000430305:G59C	ENSP00000243389:G59C	G	+	1	0	SLC36A1	150823338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.552000	0.73914	0.924000	0.37069	0.655000	0.94253	GGC		0.463	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1		NM_078483	
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16256538	16256538	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:16256538C>T	ENST00000375759.3	+	11	4007	c.3803C>T	c.(3802-3804)tCc>tTc	p.S1268F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1268					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1268F(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGACATGGTTCCTTCCATGAA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											88.0	92.0	90.0					1																	16256538		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3803C>T	1.37:g.16256538C>T	ENSP00000364912:p.Ser1268Phe		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859725	0.17178	.	.	ENSG00000065526	ENST00000375759	T	0.10005	2.92	5.02	5.02	0.67125	.	.	.	.	.	T	0.07638	0.0192	N	0.14661	0.345	0.39167	D	0.96252	B	0.21381	0.055	B	0.15052	0.012	T	0.19943	-1.0290	9	0.59425	D	0.04	-12.8035	12.906	0.58152	0.0:0.9224:0.0:0.0776	.	1268	Q96T58	MINT_HUMAN	F	1268	ENSP00000364912:S1268F	ENSP00000364912:S1268F	S	+	2	0	SPEN	16129125	0.993000	0.37304	0.996000	0.52242	0.986000	0.74619	2.587000	0.46128	2.626000	0.88956	0.557000	0.71058	TCC		0.458	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001	
SSH1	54434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109182653	109182653	+	Missense_Mutation	SNP	G	G	A	rs151176410		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:109182653G>A	ENST00000326495.5	-	15	2354	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	SSH1_ENST00000360239.3_Missense_Mutation_p.S442F	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	754					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S754F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAAAAGGAGGGACTTTGGCAG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19439	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						G	PHE/SER	0,4406		0,0,2203	93.0	99.0	97.0		2261	4.3	1.0	12	dbSNP_134	97	23,8577	16.6+/-54.9	0,23,4277	yes	missense	SSH1	NM_018984.3	155	0,23,6480	AA,AG,GG		0.2674,0.0,0.1768	possibly-damaging	754/1050	109182653	23,12983	2203	4300	6503	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2261C>T	12.37:g.109182653G>A	ENSP00000315713:p.Ser754Phe		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.06	2.421461	0.42918	0.0	0.002674	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12672	2.84;2.66	5.2	4.28	0.50868	.	3.248150	0.00698	N	0.000778	T	0.31451	0.0797	L	0.57536	1.79	0.32370	N	0.555984	P;D	0.59767	0.744;0.986	B;P	0.54312	0.118;0.748	T	0.02214	-1.1194	10	0.56958	D	0.05	-10.4268	11.0894	0.48106	0.0722:0.1294:0.7984:0.0	.	754;442	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	F	442;754	ENSP00000353374:S442F;ENSP00000315713:S754F	ENSP00000315713:S754F	S	-	2	0	SSH1	107706782	0.581000	0.26741	0.969000	0.41365	0.938000	0.57974	2.520000	0.45554	1.248000	0.43934	0.655000	0.94253	TCC		0.527	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1		NM_018984	
ST6GALNAC5	81849	broad.mit.edu;hgsc.bcm.edu	37	1	77510087	77510087	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:77510087C>T	ENST00000477717.1	+	3	695	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	154					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.R154C(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GAGGATCCTCCGCAACCGCCA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											66.0	57.0	60.0					1																	77510087		2203	4300	6503	SO:0001583	missense	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.460C>T	1.37:g.77510087C>T	ENSP00000417583:p.Arg154Cys		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113814	0.77210	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.31247	1.5	5.72	5.72	0.89469	.	0.201290	0.52532	D	0.000072	T	0.52224	0.1721	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.59434	-0.7455	10	0.72032	D	0.01	-9.4392	13.3637	0.60671	0.2753:0.7246:0.0:0.0	.	154	Q9BVH7	SIA7E_HUMAN	C	154;64	ENSP00000417583:R154C	ENSP00000436263:R154C	R	+	1	0	ST6GALNAC5	77282675	0.997000	0.39634	1.000000	0.80357	0.877000	0.50540	2.497000	0.45354	2.693000	0.91896	0.655000	0.94253	CGC		0.637	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2		NM_030965	
SYCP2L	221711	broad.mit.edu;ucsc.edu	37	6	10911079	10911079	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:10911079G>T	ENST00000283141.6	+	12	1191	c.895G>T	c.(895-897)Gct>Tct	p.A299S	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.A140S	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	299						nucleus (GO:0005634)		p.A299S(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCCGTGTATTGCTGCTTTTGC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											284.0	258.0	267.0					6																	10911079		1930	4132	6062	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.895G>T	6.37:g.10911079G>T	ENSP00000283141:p.Ala299Ser		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442178	0.12164	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.39592	1.07;2.39	5.66	2.77	0.32553	.	0.221754	0.38272	N	0.001747	T	0.18635	0.0447	L	0.31420	0.93	0.49213	D	0.999766	P;P	0.45715	0.525;0.865	B;P	0.46585	0.116;0.521	T	0.02661	-1.1127	10	0.44086	T	0.13	-0.3115	5.8649	0.18768	0.1402:0.0:0.4763:0.3835	.	140;299	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	S	140;299	ENSP00000440676:A140S;ENSP00000283141:A299S	ENSP00000283141:A299S	A	+	1	0	SYCP2L	11019065	0.102000	0.21896	0.656000	0.29637	0.721000	0.41392	0.196000	0.17176	0.721000	0.32231	0.591000	0.81541	GCT		0.418	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3		NM_194299	
TMEM200A	114801	broad.mit.edu;hgsc.bcm.edu	37	6	130761752	130761752	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:130761752G>C	ENST00000296978.3	+	3	1056	c.185G>C	c.(184-186)gGt>gCt	p.G62A	TMEM200A_ENST00000392429.1_Missense_Mutation_p.G62A|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G62A	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	62						integral component of membrane (GO:0016021)		p.G62A(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCCCATCTGGTTTTTTTCTT	0.473																																																	2	Substitution - Missense(2)	kidney(2)											113.0	115.0	114.0					6																	130761752		2203	4300	6503	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.185G>C	6.37:g.130761752G>C	ENSP00000296978:p.Gly62Ala		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885094	0.72410	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78499	-0.2180	9	0.87932	D	0	.	19.305	0.94157	0.0:0.0:1.0:0.0	.	62	Q86VY9	T200A_HUMAN	A	62	.	ENSP00000296978:G62A	G	+	2	0	TMEM200A	130803445	1.000000	0.71417	0.950000	0.38849	0.599000	0.36880	9.809000	0.99208	2.547000	0.85894	0.655000	0.94253	GGT		0.473	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1		NM_052913	
TUBGCP2	10844	broad.mit.edu	37	10	135106637	135106637	+	Silent	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr10:135106637C>T	ENST00000252936.3	-	6	969	c.930G>A	c.(928-930)ctG>ctA	p.L310L	RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000543663.1_Silent_p.L338L|TUBGCP2_ENST00000417178.2_Silent_p.L180L|TUBGCP2_ENST00000368563.2_Silent_p.L310L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	310					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.L310L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCAGCTGCTCCAGCTGTGACA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	59.0	61.0					10																	135106637		2203	4300	6503	SO:0001819	synonymous_variant	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.930G>A	10.37:g.135106637C>T			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	CCDS7676.1																																																																																				0.617	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			
UGT2B7	7364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69972925	69972925	+	Silent	SNP	T	T	C	rs147582860	byFrequency	TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr4:69972925T>C	ENST00000508661.1	+	4	1062	c.1035T>C	c.(1033-1035)gaT>gaC	p.D345D	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000305231.7_Silent_p.D345D			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	345					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.D345D(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATAAACCAGATACCTTAGGTC	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											147.0	145.0	145.0					4																	69972925		2203	4300	6503	SO:0001819	synonymous_variant	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.1035T>C	4.37:g.69972925T>C			B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37																																																																																					0.358	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1		NM_001074	
URB1	9875	broad.mit.edu;hgsc.bcm.edu	37	21	33688961	33688961	+	Silent	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr21:33688961G>A	ENST00000382751.3	-	38	6565	c.6450C>T	c.(6448-6450)ttC>ttT	p.F2150F		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	2150						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.F2150F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						TATACAGCCTGAATATGCTGC	0.602																																																	2	Substitution - coding silent(2)	kidney(2)											40.0	49.0	46.0					21																	33688961		692	1591	2283	SO:0001819	synonymous_variant	9875			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.6450C>T	21.37:g.33688961G>A			D3DSE5|Q96NX1|Q9NYQ1	Silent	SNP	ENST00000382751.3	37	CCDS46645.1																																																																																				0.602	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139400.2			
XYLB	9942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38390050	38390050	+	Missense_Mutation	SNP	G	G	T	rs146884889		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr3:38390050G>T	ENST00000207870.3	+	2	157	c.67G>T	c.(67-69)Gtt>Ttt	p.V23F	XYLB_ENST00000542835.1_5'UTR|XYLB_ENST00000427323.1_Missense_Mutation_p.V23F	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	23					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.V23F(1)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGTAAAGGTTGTTGCTGTTGA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											206.0	184.0	191.0					3																	38390050		2203	4300	6503	SO:0001583	missense	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.67G>T	3.37:g.38390050G>T	ENSP00000207870:p.Val23Phe		B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523576	0.44866	.	.	ENSG00000093217	ENST00000427323;ENST00000207870	T;T	0.51325	2.12;0.71	5.49	4.6	0.57074	Carbohydrate kinase, FGGY, N-terminal (1);	0.172614	0.51477	D	0.000089	T	0.64594	0.2612	M	0.78916	2.43	0.80722	D	1	P	0.48764	0.915	P	0.61201	0.885	T	0.67090	-0.5758	10	0.72032	D	0.01	.	10.8405	0.46712	0.0918:0.0:0.9082:0.0	.	23	O75191	XYLB_HUMAN	F	23	ENSP00000412282:V23F;ENSP00000207870:V23F	ENSP00000207870:V23F	V	+	1	0	XYLB	38365054	0.995000	0.38212	0.998000	0.56505	0.182000	0.23217	2.756000	0.47549	2.757000	0.94681	0.462000	0.41574	GTT		0.428	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2		NM_005108	
CFAP44	55779	broad.mit.edu	37	3	113049451	113049451	+	Missense_Mutation	SNP	A	A	C	rs79365690|rs370566069		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr3:113049451A>C	ENST00000393845.2	-	26	3746	c.3680T>G	c.(3679-3681)gTt>gGt	p.V1227G	WDR52_ENST00000308346.6_5'Flank	NM_001164496.1	NP_001157968.1												p.V375G(5)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCCTCAACAACAGCCACTTT	0.408																																																	5	Substitution - Missense(5)	kidney(5)																																								SO:0001583	missense	55779																														ENST00000393845.2:c.3680T>G	3.37:g.113049451A>C	ENSP00000377428:p.Val1227Gly			Missense_Mutation	SNP	ENST00000393845.2	37	CCDS54624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.22|14.22	2.469473|2.469473	0.43839|0.43839	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845	.|T	.|0.11821	.|2.74	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.643254	.|0.11770	.|U	.|0.531195	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.56563	.|0.801	T|T	0.01169|0.01169	-1.1430|-1.1430	5|10	.|0.87932	.|D	.|0	-19.8203|-19.8203	8.8767|8.8767	0.35350|0.35350	0.854:0.0:0.146:0.0|0.854:0.0:0.146:0.0	.|.	.|1227	.|Q96MT7-2	.|.	W|G	363|1227	.|ENSP00000377428:V1227G	.|ENSP00000377428:V1227G	C|V	-|-	3|2	2|0	WDR52|WDR52	114532141|114532141	0.947000|0.947000	0.32204|0.32204	0.873000|0.873000	0.34254|0.34254	0.340000|0.340000	0.28889|0.28889	3.859000|3.859000	0.55987|0.55987	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGT|GTT		0.408	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
ZFAND5	7763	broad.mit.edu;ucsc.edu	37	9	74971943	74971943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr9:74971943G>A	ENST00000237937.3	-	5	954	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	ZFAND5_ENST00000343431.2_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376962.5_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Nonsense_Mutation_p.Q133*	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	133					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q133*(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTACTGGGCTGAGAAACTGAT	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											109.0	100.0	103.0					9																	74971943		2203	4299	6502	SO:0001587	stop_gained	7763			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.397C>T	9.37:g.74971943G>A	ENSP00000237937:p.Gln133*		A8K484	Nonsense_Mutation	SNP	ENST00000237937.3	37	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	G	40	8.252544	0.98727	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.377447	0.33092	N	0.005282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-4.3916	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;133;133;185	.	ENSP00000237937:Q133X	Q	-	1	0	ZFAND5	74161763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.747000	0.47475	2.941000	0.99782	0.655000	0.94253	CAG		0.383	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			
ZBTB6	10773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125674096	125674096	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr9:125674096G>T	ENST00000373659.3	-	2	344	c.256C>A	c.(256-258)Ctg>Atg	p.L86M		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	86	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L86M(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TAGCAAGACAGTAACAATTTT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											101.0	105.0	104.0					9																	125674096		2203	4300	6503	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.256C>A	9.37:g.125674096G>T	ENSP00000362763:p.Leu86Met		A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754754	0.49362	.	.	ENSG00000186130	ENST00000373659	T	0.70749	-0.51	6.17	5.27	0.74061	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000002	D	0.83041	0.5168	M	0.80183	2.485	0.48762	D	0.999706	D	0.65815	0.995	D	0.83275	0.996	D	0.84562	0.0650	10	0.66056	D	0.02	.	10.0281	0.42083	0.1526:0.0:0.8474:0.0	.	86	Q15916	ZBTB6_HUMAN	M	86	ENSP00000362763:L86M	ENSP00000362763:L86M	L	-	1	2	ZBTB6	124713917	1.000000	0.71417	0.980000	0.43619	0.638000	0.38207	5.428000	0.66489	1.598000	0.50083	0.655000	0.94253	CTG		0.393	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1		NM_006626	
ZNF341	84905	broad.mit.edu	37	20	32378919	32378920	+	Frame_Shift_Ins	INS	-	-	C	rs143800289		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr20:32378919_32378920insC	ENST00000375200.1	+	15	2526_2527	c.2161_2162insC	c.(2161-2163)tccfs	p.S721fs	RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Frame_Shift_Ins_p.S714fs|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	721					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(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CAAGGGCTTTTCCCGCCACAAA	0.663																																																	0																																										SO:0001589	frameshift_variant	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2164dupC	20.37:g.32378922_32378922dupC	ENSP00000364346:p.Ser721fs		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Frame_Shift_Ins	INS	ENST00000375200.1	37																																																																																					0.663	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				
ZYG11B	79699	hgsc.bcm.edu;ucsc.edu	37	1	53250580	53250580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:53250580delT	ENST00000294353.6	+	5	1269	c.1124delT	c.(1123-1125)atgfs	p.M375fs	ZYG11B_ENST00000443756.2_Frame_Shift_Del_p.M375fs|ZYG11B_ENST00000545132.1_Frame_Shift_Del_p.M375fs	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	375										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCACCCTATGAATTTGCCA	0.448																																																	0													99.0	101.0	101.0					1																	53250580		2203	4300	6503	SO:0001589	frameshift_variant	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1124delT	1.37:g.53250580delT	ENSP00000294353:p.Met375fs		Q8N2X3|Q9H8L8	Frame_Shift_Del	DEL	ENST00000294353.6	37	CCDS30717.1																																																																																				0.448	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1		NM_024646	
