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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
DDX51	317781	broad.mit.edu	hg19	12	132624744	132624744	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr12:132624744C>T	ENST00000397333.3	-	12	1712	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	558	Helicase C-terminal.	rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	TGCTGATGAGCCTGCCGGGAC	0.692	0	30.0	34.0	33.0	12	132624744	2141	4208	6349	SO:0001630	splice_region_variant	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163	"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product						Standard	NM_175066	Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1674-1G>A	12.37:g.132624744C>T		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	ENST00000397333.3	37	CCDS41865.1																																																																																			DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1		53.639605	0	-3	38	0	0	1	0	NM_175066	18	53.639605	18	0.500000
C14orf166	51637	broad.mit.edu	hg19	14	52471211	52471211	+	Silent	SNP	A	A	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr14:52471211A>C	ENST00000261700.3	+	8	877	c.712A>C	c.(712-714)Aga>Cga	p.R238R	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	238			microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)				GACAGACCACAGACTGGGAAA	0.438	0	78.0	81.0	80.0	14	52471211	2202	4300	6502	SO:0001819	synonymous_variant	AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302		23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858			10810093, 24608264	Standard	NM_016039	Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.712A>C	14.37:g.52471211A>C			ENST00000261700.3	37	CCDS9705.1																																																																																			C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1		22.991266	0	-11	40	0	0	1	0	NM_016039	8	23.710880	17	0.320000
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209		activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	GTGGGGGGCCAGCGGTCGGAG	0.612	82	104.0	89.0	94.0	19	3118942	2203	4300	6503	SO:0001583	missense	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256		4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2	1302014, 23802516	Standard	NM_002067	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu	O15109|Q14350|Q6IB00	ENST00000078429.4	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		27.335887	0	-3	78	0	0	1	0	NM_002067	10	28.777847	25	0.285714
NME7	29922	broad.mit.edu	hg19	1	169256568	169256568	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr1:169256568T>C	ENST00000367811.3	-	7	983	c.727A>G	c.(727-729)Att>Gtt	p.I243V	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.I207V	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	243		CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)				GGTTTAACAATGCAACAGGTA	0.353	0	245.0	244.0	244.0	1	169256568	2203	4300	6503	SO:0001583	missense	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156		20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""		19852809	Standard	NM_197972	Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.727A>G	1.37:g.169256568T>C	ENSP00000356785:p.Ile243Val	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	ENST00000367811.3	37	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	T	6.385	0.439161	0.12104	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.58210	0.35;0.35	4.57	2.28	0.28536	.	0.104565	0.64402	D	0.000005	T	0.13415	0.0325	L	0.28054	0.825	0.45205	D	0.998214	B;B	0.11235	0.004;0.002	B;B	0.17722	0.009;0.019	T	0.13683	-1.0500	9	0.02654	T	1	-19.4945	8.0999	0.30850	0.0:0.1608:0.0:0.8392	.	247;243	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	V	207;243	ENSP00000433341:I207V;ENSP00000356785:I243V	ENSP00000356785:I243V	I	-	1	0	NME7	167523192	1.000000	0.71417	0.924000	0.36721	0.535000	0.34838	2.845000	0.48254	1.697000	0.51169	0.519000	0.50382	ATT	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1		235.532098	0	-46	209	0	0	1	0	NM_013330	74	235.956778	92	0.445783
SLC12A5	57468	broad.mit.edu	hg19	20	44672542	44672542	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr20:44672542C>T	ENST00000243964.3	+	11	1462	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	SLC12A5_ENST00000454036.2_Missense_Mutation_p.A478V	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	478		potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			CTGTTTGGGGCCTGCATTGAG	0.557	0	130.0	122.0	125.0	20	44672542	2203	4300	6503	SO:0001583	missense	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140	"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726				Standard	NM_020708	Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000243964.3:c.1364C>T	20.37:g.44672542C>T	ENSP00000243964:p.Ala455Val	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	ENST00000243964.3	37	CCDS13391.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282302	0.95489	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98567	-5.0;-5.0	3.96	3.96	0.45880	Amino acid permease domain (1);	0.000000	0.64402	D	0.000001	D	0.98801	0.9596	M	0.87328	2.875	0.80722	D	1	D;P	0.56746	0.977;0.69	P;P	0.62560	0.904;0.508	D	0.99418	1.0932	10	0.87932	D	0	.	15.1198	0.72434	0.0:1.0:0.0:0.0	.	478;455	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	478;455	ENSP00000387694:A478V;ENSP00000243964:A455V	ENSP00000243964:A455V	A	+	2	0	SLC12A5	44105949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.580000	0.82523	2.183000	0.69458	0.655000	0.94253	GCC	SLC12A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079558.2		86.629274	0	-43	115	0	0	1	0		30	87.452133	47	0.389610
MS4A8	83661	broad.mit.edu	hg19	11	60468456	60468456	+	Silent	SNP	G	G	A	rs148869742	by1000genomes	TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr11:60468456G>A	ENST00000300226.2	+	2	326	c.123G>A	c.(121-123)ccG>ccA	p.P41P		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8												ACAGCCAGCCGCAAGTCCACC	0.532	0	113.0	105.0	107.0	11	60468456	2203	4300	6503	SO:0001819	synonymous_variant	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959		13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B	11245982, 11401424	Standard	NM_031457	Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.123G>A	11.37:g.60468456G>A		Q8TCA5	ENST00000300226.2	37	CCDS7990.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.026	0.002253	0.07819	.	.	ENSG00000166959	ENST00000525458	.	.	.	3.74	-4.38	0.03622	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.27720	N	0.945149	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	-8.8858	1.9656	0.03395	0.1446:0.2097:0.1428:0.5028	.	.	.	.	H	23	.	.	R	+	2	0	MS4A8B	60225032	0.242000	0.23868	0.351000	0.25721	0.005000	0.04900	-1.613000	0.02059	-0.870000	0.04047	-2.477000	0.00200	CGC	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		74.663274	0	-36	71	0	0	1	0		25	75.170734	37	0.403226
MDN1	23195	ucsc.edu	hg19	6	90486405	90486405	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593																										GCTGTGAAACAGTCTAGAGCC	0.343	0	115.0	107.0	110.0	6	90486405	2202	4299	6501	SO:0001583	missense	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159		18302	protein-coding gene	gene with protein product					9205841, 12102729	Standard	XM_005248699	Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1735T>C	6.37:g.90486405A>G	ENSP00000358400:p.Cys579Arg	O15019|Q5T794	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822644	0.50739	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.38560	1.13;1.13;1.13	5.07	5.07	0.68467	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.80616	2.505	0.80722	D	1	B	0.29571	0.249	B	0.34452	0.183	T	0.47535	-0.9110	10	0.62326	D	0.03	.	14.499	0.67709	1.0:0.0:0.0:0.0	.	579	Q9NU22	MDN1_HUMAN	R	579;579;506	ENSP00000358400:C579R;ENSP00000413970:C579R;ENSP00000409664:C506R	ENSP00000358400:C579R	C	-	1	0	MDN1	90543126	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.949000	0.87791	1.922000	0.55676	0.460000	0.39030	TGT	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				-20	55						4		22	
BAP1	8314	broad.mit.edu	hg19	3	52437840	52437840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr3:52437840G>A	ENST00000460680.1	-	13	1792	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q423*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	441		monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	GTGTTGGGCTGCAGCACTGAC	0.567	0	98.0	100.0	100.0	3	52437840	2203	4300	6503	SO:0001587	stop_gained	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930		950	protein-coding gene	gene with protein product		603089			9528852	Standard	NM_004656	Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1321C>T	3.37:g.52437840G>A	ENSP00000417132:p.Gln441*	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230853	0.58777	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	6.05	6.05	0.98169	.	0.183612	0.39341	N	0.001389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.7892	0.91966	0.0:0.0:1.0:0.0	.	.	.	.	X	441;423	.	ENSP00000296288:Q423X	Q	-	1	0	BAP1	52412880	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.561000	0.67339	2.880000	0.98712	0.655000	0.94253	CAG	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		89.546238	0	-16	58	0	0	1	0		27	94.339159	3	0.900000
ZDHHC23	254887	broad.mit.edu	hg19	3	113675265	113675265	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr3:113675265G>C	ENST00000330212.3	+	4	1251	c.952G>C	c.(952-954)Ggg>Cgg	p.G318R	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G312R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	318			integral to membrane	acyltransferase activity|zinc ion binding	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16					CTCGGTGTATGGGATCACACT	0.418	0	226.0	209.0	215.0	3	113675265	2203	4300	6503	SO:0001583	missense	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307	"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product					12477932	Standard	NM_173570	Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.952G>C	3.37:g.113675265G>C	ENSP00000330485:p.Gly318Arg	D3DN76	ENST00000330212.3	37	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920097	0.92249	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.24908	1.83;1.83	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55062	-0.8199	10	0.51188	T	0.08	-1.5266	19.5775	0.95450	0.0:0.0:1.0:0.0	.	318	Q8IYP9	ZDH23_HUMAN	R	318;312	ENSP00000330485:G318R;ENSP00000417840:G312R	ENSP00000330485:G318R	G	+	1	0	ZDHHC23	115157955	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	9.209000	0.95087	2.634000	0.89283	0.650000	0.86243	GGG	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1		117.552074	0	-16	103	0	0	1	0	NM_173570	35	123.689485	4	0.897436
ARSB	411	broad.mit.edu	hg19	5	78260295	78260295	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr5:78260295T>C	ENST00000264914.4	-	3	1170	c.634A>G	c.(634-636)Aca>Gca	p.T212A	ARSB_ENST00000396151.3_Missense_Mutation_p.T212A|ARSB_ENST00000565165.1_Missense_Mutation_p.T212A	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	212		lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	AATATGTTTGTTGAATACATA	0.373	0	85.0	82.0	83.0	5	78260295	2203	4300	6503	SO:0001583	missense	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542			2303452	Standard	NM_000046	Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.634A>G	5.37:g.78260295T>C	ENSP00000264914:p.Thr212Ala	B2RC20|Q8N322|Q9UDI9	ENST00000264914.4	37	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504696	0.44558	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98747	-5.11;-5.11	5.36	2.98	0.34508	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.73962	2.25	0.54753	D	0.999987	B;B	0.31949	0.049;0.348	B;B	0.41691	0.029;0.364	D	0.96020	0.9008	10	0.48119	T	0.1	.	9.8251	0.40908	0.0:0.1289:0.0:0.8711	.	212;212	Q8N322;P15848	.;ARSB_HUMAN	A	212	ENSP00000264914:T212A;ENSP00000379455:T212A	ENSP00000264914:T212A	T	-	1	0	ARSB	78296051	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	1.851000	0.39338	0.437000	0.26423	0.528000	0.53228	ACA	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2		65.826906	0	-20	46	0	0	1	0	NM_000046	19	65.832806	18	0.513514
MACF1	23499	broad.mit.edu	hg19	1	39798840	39798840	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr1:39798840C>G	ENST00000564288.1	+	37	7357	c.6580C>G	c.(6580-6582)Ccc>Gcc	p.P2194A	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P634A|MACF1_ENST00000372915.3_Missense_Mutation_p.P2199A|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2231A|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2199		cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		TCACATAAAACCCCAAAGCAA	0.358	0	42.0	46.0	45.0	1	39798840	2203	4300	6503	SO:0001583	missense	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271			7635207, 10529403	Standard	NM_012090	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6595C>G	1.37:g.39798840C>G	ENSP00000362006:p.Pro2199Ala	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808856	0.00606	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60040	0.22;1.29	5.92	-0.709	0.11237	.	1.839560	0.02323	N	0.073199	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17379	-1.0371	10	0.02654	T	1	.	2.122	0.03728	0.1958:0.1887:0.1148:0.5008	.	2199	Q9UPN3	MACF1_HUMAN	A	2199;634	ENSP00000362006:P2199A;ENSP00000289893:P634A	ENSP00000289893:P634A	P	+	1	0	MACF1	39571427	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.794000	0.04584	-0.151000	0.11176	0.467000	0.42956	CCC	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		59.546777	0	-5	47	0	0	1	0	NM_033044	18	59.596975	21	0.461538
FAM171A1	221061	broad.mit.edu	hg19	10	15263054	15263054	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr10:15263054A>G	ENST00000378116.4	-	6	766	c.760T>C	c.(760-762)Tgg>Cgg	p.W254R	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	254			integral to membrane		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52					CTCTTCAGCCACGTTCCTGTG	0.507	0	78.0	67.0	71.0	10	15263054	2203	4300	6503	SO:0001583	missense	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468		23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38		Standard	NM_001010924	Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.760T>C	10.37:g.15263054A>G	ENSP00000367356:p.Trp254Arg	D3DRT9|Q32M49|Q8N4I0	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039878	0.55003	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.62788	-0.0	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81008	-0.1127	10	0.87932	D	0	-16.1467	16.1199	0.81342	1.0:0.0:0.0:0.0	.	254	Q5VUB5	F1711_HUMAN	R	254;255	ENSP00000367356:W254R	ENSP00000367356:W254R	W	-	1	0	FAM171A1	15303060	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	8.962000	0.93254	2.194000	0.70268	0.533000	0.62120	TGG	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		39.267063	0	-26	25	0	0	1	0	XM_167709	13	39.679683	21	0.382353
TTLL4	9654	broad.mit.edu	hg19	2	219603802	219603802	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr2:219603802G>A	ENST00000392102.1	+	3	1743	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	TTLL4_ENST00000457313.1_Missense_Mutation_p.R303H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R468H|TTLL4_ENST00000442769.1_Missense_Mutation_p.R468H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	468		protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	GTGGCCACCCGCCTCTCTTCC	0.532	1	47.0	49.0	48.0	2	219603802	2203	4299	6502	SO:0001583	missense		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912	"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product					11054573	Standard	NM_014640	Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1403G>A	2.37:g.219603802G>A	ENSP00000375951:p.Arg468His	A8K6V5|Q8WW29	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	8.351	0.830869	0.16820	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05382	3.68;3.89;3.45;3.89	4.67	-0.845	0.10737	.	2.277970	0.01694	N	0.026803	T	0.07143	0.0181	L	0.34521	1.04	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.009	B;B;B	0.06405	0.002;0.002;0.002	T	0.42050	-0.9474	10	0.48119	T	0.1	.	9.5462	0.39282	0.6821:0.0:0.3179:0.0	.	303;468;468	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	H	303;468;468;468	ENSP00000393332:R303H;ENSP00000375951:R468H;ENSP00000396555:R468H;ENSP00000258398:R468H	ENSP00000258398:R468H	R	+	2	0	TTLL4	219312046	0.000000	0.05858	0.187000	0.23214	0.642000	0.38348	0.045000	0.14013	-0.390000	0.07774	-0.367000	0.07326	CGC	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		74.704393	0	-25	34	0	0	1	0	NM_014640	24	75.053987	16	0.600000
LRP1	4035	ucsc.edu	hg19	12	57577629	57577629	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593																										CCAGACGTGGCGTGAAGACGT	0.612	0	106.0	95.0	98.0	12	57577629	2203	4300	6503	SO:0001583	missense	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR	2548950	Standard	NM_002332	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5866C>A	12.37:g.57577629C>A	ENSP00000243077:p.Arg1956Ser	Q2PP12|Q86SW0|Q8IVG8	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242262	0.58995	.	.	ENSG00000123384	ENST00000243077	D	0.91180	-2.8	4.94	4.03	0.46877	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000004	D	0.91476	0.7309	L	0.43598	1.365	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	D	0.87991	0.2749	10	0.14252	T	0.57	.	11.8504	0.52407	0.3158:0.6842:0.0:0.0	.	1956	Q07954	LRP1_HUMAN	S	1956	ENSP00000243077:R1956S	ENSP00000243077:R1956S	R	+	1	0	LRP1	55863896	0.995000	0.38212	0.968000	0.41197	0.820000	0.46376	0.407000	0.21049	1.254000	0.44035	0.561000	0.74099	CGT	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2				-34	34					NM_002332	4		37	
C16orf11	146325	broad.mit.edu	hg19	16	613805	613806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr16:613805_613806insG	ENST00000409413.3	+	2	790_791	c.511_512insG	c.(511-513)aggfs	p.R171fs		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	171	Pro-rich.				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10					AGGGGACCCAAGGGGCGTGGGT	0.738	0									SO:0001589	frameshift_variant																									ENST00000409413.3:c.515dupG	16.37:g.613809_613809dupG	ENSP00000386499:p.Arg171fs	B8ZZ27|Q8N233|Q96AX3|Q96S23	ENST00000409413.3	37	CCDS45365.1																																																																																			C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1	.	.		-2	7						2		4	0.33
C14orf166	51637	broad.mit.edu	hg19	14	52471216	52471217	+	In_Frame_Ins	INS	-	-	ACT			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr14:52471216_52471217insACT	ENST00000261700.3	+	8	882_883	c.717_718insACT	c.(718-720)gga>ACTgga	p.239_240insT	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	239			microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)				ACCACAGACTGGGAAAAGTTGG	0.436	1									SO:0001652	inframe_insertion	AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302		23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858			10810093, 24608264	Standard	NM_016039	Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	Exception_encountered	14.37:g.52471216_52471217insACT	ENSP00000261700:p.Leu239_Gly240insThr		ENST00000261700.3	37	CCDS9705.1																																																																																			C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	.	.		-7	42					NM_016039	10		18	0.36
GIGYF2	26058	broad.mit.edu	hg19	2	233697734	233697736	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr2:233697734_233697736delGCA	ENST00000373566.3	+	23	2960_2962	c.2763_2765delGCA	c.(2761-2766)aggcag>agg	p.Q925del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q924del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q897del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q925del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q903del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q734del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q903del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	903	Gln-rich.	cell death		protein binding	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	TGCGCCAGAGGCAGCAGCAGCAA	0.586	0									SO:0001651	inframe_deletion	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120	"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11	9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575	Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409196.3:c.2679_2681delGCA	2.37:g.233697743_233697745delGCA	ENSP00000387070:p.Gln897del	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	ENST00000409196.3	37	CCDS46543.1																																																																																			GIGYF2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330318.1	.	.		8	11					NM_001103146	2		4	0.33