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
ACTL7B	10880	broad.mit.edu	hg19	9	111617426	111617426	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr9:111617426G>A	ENST00000374667.3	-	1	1813	c.785C>T	c.(784-786)gCg>gTg	p.A262V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	262			actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20					CAGGAAGGCCGCATAGCAGCA	0.612	0	50.0	48.0	49.0	9	111617426	2203	4300	6503	SO:0001583	missense	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156		162	protein-coding gene	gene with protein product		604304			10373328, 12907721	Standard	NM_006686	Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.785C>T	9.37:g.111617426G>A	ENSP00000363799:p.Ala262Val	B2R9Q2|Q5JSV1	ENST00000374667.3	37	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	1.940	-0.443762	0.04604	.	.	ENSG00000148156	ENST00000374667	D	0.89050	-2.46	5.26	4.35	0.52113	.	0.646195	0.12239	N	0.486687	T	0.60650	0.2285	N	0.00058	-2.35	0.34135	D	0.66565	B	0.20164	0.042	B	0.18561	0.022	T	0.66118	-0.6003	10	0.87932	D	0	.	7.077	0.25209	0.1855:0.0:0.8145:0.0	.	262	Q9Y614	ACL7B_HUMAN	V	262	ENSP00000363799:A262V	ENSP00000363799:A262V	A	-	2	0	ACTL7B	110657247	0.188000	0.23250	0.288000	0.24862	0.176000	0.22953	3.366000	0.52343	2.458000	0.83093	0.655000	0.94253	GCG	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1		-4.217065	0	3	54	0	0	1	0	NM_006686	3	6.453201	49	0.057692
MACF1	23499	broad.mit.edu	hg19	1	39853083	39853083	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr1:39853083G>A	ENST00000564288.1	+	58	15346	c.14569G>A	c.(14569-14571)Ggg>Agg	p.G4857R	MACF1_ENST00000545844.1_Missense_Mutation_p.G2795R|MACF1_ENST00000539005.1_Missense_Mutation_p.G2774R|MACF1_ENST00000372915.3_Missense_Mutation_p.G4862R|MACF1_ENST00000361689.2_Missense_Mutation_p.G2795R|MACF1_ENST00000317713.7_Missense_Mutation_p.G2795R|MACF1_ENST00000567887.1_Missense_Mutation_p.G4894R|MACF1_ENST00000289893.4_Missense_Mutation_p.G3297R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4862		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)		TGTGGCTGAAGGGGAATCTCT	0.428	0	123.0	140.0	134.0	1	39853083	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.14584G>A	1.37:g.39853083G>A	ENSP00000362006:p.Gly4862Arg	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.347575|4.347575	0.82022|0.82022	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.77685|0.77685	0.4167|0.4167	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.996;0.996|.	T|T	0.73924|0.73924	-0.3829|-0.3829	10|5	0.66056|.	D|.	0.02|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4862;2795;2739|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	R|K	2795;4862;2795;2795;2774;3297|1907	ENSP00000439537:G2795R;ENSP00000362006:G4862R;ENSP00000354573:G2795R;ENSP00000313438:G2795R;ENSP00000444364:G2774R;ENSP00000289893:G3297R|.	ENSP00000289893:G3297R|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39625670|39625670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|AGG	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		144.068123	0	-64	146	0	0	1	0	NM_033044	45	144.285113	55	0.450000
ITPR1	3708	broad.mit.edu	hg19	3	4725409	4725409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr3:4725409G>A	ENST00000354582.6	+	28	3775	c.3425G>A	c.(3424-3426)tGg>tAg	p.W1142*	ITPR1_ENST00000423119.2_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.W1118*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1142		activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	TCAGAGCTTTGGGTGTACAAA	0.463	0	103.0	96.0	98.0	3	4725409	1946	4137	6083	SO:0001587	stop_gained	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3380G>A	3.37:g.4725409G>A	ENSP00000401671:p.Trp1127*	E7EPX7|E9PDE9|Q14660|Q99897	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	42	9.686899	0.99238	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0171	0.86422	0.0:0.0:1.0:0.0	.	.	.	.	X	1142;1127;1142;1133;1133;1118;1127	.	ENSP00000306253:W1127X	W	+	2	0	ITPR1	4700409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.449000	0.97603	2.419000	0.82065	0.655000	0.94253	TGG	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		50.992010	0	-25	34	0	0	1	0	NM_002222	16	51.115005	12	0.571429
KCNK13	56659	broad.mit.edu	hg19	14	90651142	90651142	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:90651142G>A	ENST00000282146.4	+	2	1463	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	341			integral to membrane	potassium channel activity|voltage-gated ion channel activity	haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)			GACGGGCGCCGGCTCTCAGGG	0.612	0	52.0	54.0	53.0	14	90651142	2203	4300	6503	SO:0001583	missense	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367			11060316, 16382106	Standard	NM_022054	Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1022G>A	14.37:g.90651142G>A	ENSP00000282146:p.Arg341Gln	B5TJL8|Q96E79	ENST00000282146.4	37	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180478	0.57800	.	.	ENSG00000152315	ENST00000282146	T	0.49139	0.79	5.18	4.29	0.51040	.	0.182554	0.26995	N	0.021441	T	0.69006	0.3063	M	0.83603	2.65	0.58432	D	0.999999	D	0.71674	0.998	D	0.68353	0.957	T	0.73839	-0.3856	10	0.62326	D	0.03	.	13.6466	0.62286	0.075:0.0:0.925:0.0	.	341	Q9HB14	KCNKD_HUMAN	Q	341	ENSP00000282146:R341Q	ENSP00000282146:R341Q	R	+	2	0	KCNK13	89720895	1.000000	0.71417	0.456000	0.27044	0.009000	0.06853	9.842000	0.99487	1.192000	0.43071	-0.136000	0.14681	CGG	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1		32.149940	0	-7	63	0	0	1	0	NM_022054	12	33.183984	25	0.324324
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302					CTCTGACCTTTGGCCCCCTAC	0.348	153	108.0	105.0	106.0	9	80409488	2203	4300	6503	SO:0001583	missense		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052		4390	protein-coding gene	gene with protein product		600998			8825633	Standard	NM_002072	Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		163.608421	0	-42	70	0	0	1	0	NM_002072	48	164.899767	27	0.640000
PCDHA6	0	broad.mit.edu	hg19	5	140209783	140209783	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr5:140209783G>A	ENST00000529310.1	+	1	2221	c.2107G>A	c.(2107-2109)Gcc>Acc	p.A703T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1									NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCTGATCATCGCCATCTGCGC	0.687	0	58.0	60.0	59.0	5	140209783	2203	4296	6499	SO:0001583	missense	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842	"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2	10380929, 10662547	Standard	NM_018909	Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2107G>A	5.37:g.140209783G>A	ENSP00000433378:p.Ala703Thr	O75283|Q9NRT8	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186855	0.38609	.	.	ENSG00000081842	ENST00000529310	T	0.20463	2.07	4.12	3.23	0.37069	.	0.000000	0.36482	U	0.002577	T	0.52008	0.1708	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.936	T	0.55879	-0.8071	10	0.87932	D	0	.	4.9613	0.14068	0.0829:0.1465:0.6195:0.1511	.	703;703	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	703	ENSP00000433378:A703T	ENSP00000433378:A703T	A	+	1	0	PCDHA6	140189967	0.572000	0.26668	0.917000	0.36280	0.106000	0.19336	1.585000	0.36600	1.059000	0.40554	0.306000	0.20318	GCC	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		-6.425355	0	-29	84	0	0	1	0	NM_018909	3	6.461618	57	0.050000
SERPINA9	327657	broad.mit.edu	hg19	14	94935951	94935951	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:94935951G>A	ENST00000337425.5	-	2	355	c.281C>T	c.(280-282)tCc>tTc	p.S94F	SERPINA9_ENST00000380365.3_Missense_Mutation_p.S76F|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S58F|SERPINA9_ENST00000298845.7_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	76		regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	CAGGGAAGTGGAGACACTCAC	0.577	0	73.0	81.0	78.0	14	94935951	2131	4259	6390	SO:0001583	missense	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054	"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""		24172014	Standard	NM_175739	Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.227C>T	14.37:g.94935951G>A	ENSP00000369723:p.Ser76Phe	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	ENST00000380365.3	37		.	.	.	.	.	.	.	.	.	.	G	17.42	3.386000	0.61956	.	.	ENSG00000170054	ENST00000337425;ENST00000380365;ENST00000546329	D;D;D	0.88818	-2.43;-2.43;-2.43	3.99	3.09	0.35607	Serpin domain (3);	0.000000	0.56097	U	0.000028	D	0.93903	0.8049	M	0.82630	2.6	0.42146	D	0.991532	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.93989	0.7265	10	0.87932	D	0	.	11.8801	0.52571	0.0877:0.0:0.9123:0.0	.	58;76;94	Q86WD7-4;Q86WD7;Q86WD7-7	.;SPA9_HUMAN;.	F	94;76;58	ENSP00000337133:S94F;ENSP00000369723:S76F;ENSP00000445476:S58F	ENSP00000337133:S94F	S	-	2	0	SERPINA9	94005704	1.000000	0.71417	0.334000	0.25495	0.759000	0.43091	3.878000	0.56130	0.797000	0.33971	0.313000	0.20887	TCC	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2		58.381889	0	-7	47	0	0	1	0	NM_175739	19	58.496202	24	0.441860
AP1G2	8906	ucsc.edu	hg19	14	24029488	24029488	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59																										CCTGGCAGATGAAATGGGTGA	0.522	0	91.0	83.0	86.0	14	24029488	2203	4300	6503	SO:0001583	missense	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983		556	protein-coding gene	gene with protein product		603534			9733768, 9762922	Standard	XM_005268167	Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.2133C>A	14.37:g.24029488G>T	ENSP00000312442:p.Phe711Leu	D3DS51|O75504	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445521	0.84101	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852;ENST00000554477	T;T;T	0.58940	0.3;0.3;0.3	4.97	2.84	0.33178	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.73753	2.245	0.43714	D	0.996189	P;P	0.41393	0.594;0.748	P;P	0.49192	0.448;0.602	T	0.61367	-0.7077	10	0.49607	T	0.09	-20.6426	5.8624	0.18757	0.3174:0.0:0.6826:0.0	.	711;566	O75843;Q86V28	AP1G2_HUMAN;.	L	711;711;480;566;173	ENSP00000312442:F711L;ENSP00000380309:F711L;ENSP00000450805:F173L	ENSP00000312442:F711L	F	-	3	2	AP1G2	23099328	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	1.159000	0.31749	1.138000	0.42230	0.655000	0.94253	TTC	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4				-25	25					NM_003917	4		22	
TIMD4	91937	broad.mit.edu	hg19	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.		integral to membrane		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		GTGGTGGGGCTTGTTGTTGTTGT	0.537	0									SO:0001651	inframe_deletion	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850	"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096			12477932	Standard	NM_001146726	Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del	B5MCL9	ENST00000274532.2	37	CCDS4332.1																																																																																			TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	.	.		-63	218					NM_138379	7		218	0.03
KIF26A	26153	broad.mit.edu	hg19	14	104633326	104633326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:104633326delC	ENST00000315264.7	+	4	1015	c.637delC	c.(637-639)cccfs	p.P214fs	KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P353fs			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	353		blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)	GCCCCCGGCGCCCCCCTGCCT	0.731	1	8.0	12.0	11.0	14	104633326	1855	4024	5879	SO:0001589	frameshift_variant	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735	"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231			10574462, 11416179	Standard	NM_015656	Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1054delC	14.37:g.104633326delC	ENSP00000388241:p.Pro353fs	Q8TAZ7|Q96GK3|Q9UFL3	ENST00000423312.2	37	CCDS45171.1																																																																																			KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	.	.		3	8						2		4	0.33
RP11-152K4.2	0	broad.mit.edu	hg19	5	31109819	31109819	+	RNA	DEL	T	T	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr5:31109819delT	ENST00000523584.1	-	0	267																					gaggggtgccttcgatgtcat	0.488	0																																				5.37:g.31109819delT			ENST00000523584.1	37																																																																																				RP11-152K4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000374535.1	.	.		2	17						2		4	0.33
SOCS7	30837	broad.mit.edu	hg19	17	36508157	36508159	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr17:36508157_36508159delGGA	ENST00000577233.1	+	1	30_32	c.30_32delGGA	c.(28-33)ccggag>ccg	p.E13del	SOCS7_ENST00000331159.5_In_Frame_Del_p.E13del	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	13		intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)				GTCGGCCGCCGGAGGAGGAGGAC	0.788	0									SO:0001651	inframe_deletion	AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211	"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788			9344857, 12076535	Standard	XM_005257264	Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000331159.5:c.30_32delGGA	17.37:g.36508166_36508168delGGA	ENSP00000330659:p.Glu13del	A2VCU2|Q0IJ63	ENST00000331159.5	37																																																																																				SOCS7-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000441677.1	.	.		-2	5					XM_371052	2		4	0.33
SELRC1	65260	broad.mit.edu	hg19	1	53153670	53153670	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr1:53153670delT	ENST00000371538.3	-	3	457	c.418delA	c.(418-420)aggfs	p.R140fs	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	140				binding	breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6					TCACAGGCCCTTGTGTAGTAG	0.542	0	136.0	115.0	122.0	1	53153670	2203	4300	6503	SO:0001589	frameshift_variant																									ENST00000371538.3:c.418delA	1.37:g.53153670delT	ENSP00000360593:p.Arg140fs		ENST00000371538.3	37	CCDS570.1																																																																																			SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1	.	.		-22	77						32		42	0.43