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
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	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>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	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	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	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		84.612898	0	-26	86	0	0	1	0	NM_002072	27	85.163938	40	0.402985
CCDC126	90693	broad.mit.edu	hg19	7	23651026	23651026	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr7:23651026A>G	ENST00000307471.3	+	3	549	c.92A>G	c.(91-93)cAc>cGc	p.H31R	CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.H31R|CCDC126_ENST00000409765.1_Missense_Mutation_p.H31R	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	31			extracellular region		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7					ATGTTACTGCACTATACTTTT	0.338	0	129.0	117.0	121.0	7	23651026	2203	4300	6503	SO:0001583	missense	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193		22398	protein-coding gene	gene with protein product					12477932	Standard	NM_138771	Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.92A>G	7.37:g.23651026A>G	ENSP00000304355:p.His31Arg	A8K1J6|Q6UWP1|Q75MQ6	ENST00000307471.3	37	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104609	0.37145	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.71	4.57	0.56435	.	0.103867	0.64402	D	0.000002	T	0.29423	0.0733	N	0.13168	0.305	0.43242	D	0.995153	B	0.02656	0.0	B	0.04013	0.001	T	0.15464	-1.0436	9	0.26408	T	0.33	-10.6117	4.6539	0.12608	0.7328:0.0:0.2672:0.0	.	31	Q96EE4	CC126_HUMAN	R	31	.	ENSP00000304355:H31R	H	+	2	0	CCDC126	23617551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.748000	0.62148	2.180000	0.69256	0.455000	0.32223	CAC	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1		83.722667	0	3	83	0	0	1	0	NM_138771	27	83.726637	28	0.490909
PAPSS2	9060	broad.mit.edu	hg19	10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61		3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	ATAAGTTTTGCCCTGGAGGAG	0.473	0	148.0	151.0	150.0	10	89472868	2203	4300	6503	SO:0001583	missense	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682		8604	protein-coding gene	gene with protein product		603005			9771708	Standard	NM_004670	Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.182C>T	10.37:g.89472868C>T	ENSP00000354436:p.Ala61Val	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929172	0.92389	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.78364	-1.17;-1.17;-1.17	5.87	5.87	0.94306	Adenylylsulphate kinase, C-terminal (3);	0.046950	0.85682	N	0.000000	D	0.89942	0.6861	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.98;0.999	P;P	0.61477	0.717;0.889	D	0.91189	0.4982	10	0.87932	D	0	-17.7869	20.2245	0.98337	0.0:1.0:0.0:0.0	.	61;61	O95340;O95340-2	PAPS2_HUMAN;.	V	61;61;65;60	ENSP00000354436:A61V;ENSP00000406157:A61V;ENSP00000397123:A65V	ENSP00000354436:A61V	A	+	2	0	PAPSS2	89462848	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	GCC	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1		-26.019586	0	4	237	0	0	1	0		4	6.800836	131	0.029630
IYD	389434	broad.mit.edu	hg19	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203		cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	TGGTTTCGCCGCAAATGGCAA	0.433	0	122.0	109.0	113.0	6	150715311	2203	4300	6503	SO:0001583	missense	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765		21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71	16316988, 15289438	Standard	NM_001164694	Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	ENST00000344419.3	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3		-6.756627	0	-45	76	0	0	1	0	NM_203395	4	7.658189	66	0.057143
CCDC126	90693	broad.mit.edu	hg19	7	23651027	23651027	+	Silent	SNP	C	C	T			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr7:23651027C>T	ENST00000307471.3	+	3	550	c.93C>T	c.(91-93)caC>caT	p.H31H	CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Silent_p.H31H|CCDC126_ENST00000409765.1_Silent_p.H31H	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	31			extracellular region		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7					TGTTACTGCACTATACTTTTC	0.338	0	130.0	118.0	122.0	7	23651027	2203	4300	6503	SO:0001819	synonymous_variant	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193		22398	protein-coding gene	gene with protein product					12477932	Standard	NM_138771	Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.93C>T	7.37:g.23651027C>T		A8K1J6|Q6UWP1|Q75MQ6	ENST00000307471.3	37	CCDS5384.1																																																																																			CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1		85.422544	0	0	83	0	0	1	0	NM_138771	27	85.426529	28	0.490909
RHBDL3	162494	broad.mit.edu	hg19	17	30615819	30615819	+	Silent	SNP	C	C	T			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr17:30615819C>T	ENST00000269051.4	+	4	317	c.303C>T	c.(301-303)aaC>aaT	p.N101N	RHBDL3_ENST00000538145.1_Silent_p.N93N|RHBDL3_ENST00000536287.1_Silent_p.N3N	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	101	EF-hand 2.	proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)			AGATGAGCAACAAGCGTTCCA	0.637	0	35.0	30.0	32.0	17	30615819	2203	4300	6503	SO:0001819	synonymous_variant	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314	"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4	11900977	Standard	XM_006721733	Approved	VRHO	uc002hhe.1	P58872		ENST00000536287.1:c.9C>T	17.37:g.30615819C>T		A6NMH1|Q495Y4|Q495Y5|Q495Y6	ENST00000536287.1	37																																																																																				RHBDL3-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000447122.2		16.985428	0	9	17	0	0	1	0	NM_138328	5	17.610709	1	0.833333
SYNE1	23345	broad.mit.edu	hg19	6	152527476	152527476	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr6:152527476G>A	ENST00000367255.5	-	126	23447	c.22846C>T	c.(22846-22848)Cgg>Tgg	p.R7616W	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2140W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7228W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7616W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7616		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	CCTTGTTGCCGCAGAAACACT	0.483	0	70.0	62.0	65.0	6	152527476	2203	4300	6503	SO:0001583	missense	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018		17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98	9872452, 10878022	Standard	NM_182961	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22846C>T	6.37:g.152527476G>A	ENSP00000356224:p.Arg7616Trp	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	ENST00000367255.5	37	CCDS5236.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.50	2.553333	0.45487	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.58797	0.4;1.32;0.41;0.31;0.4;0.53;2.4;1.49	5.81	2.87	0.33458	.	0.000000	0.49916	D	0.000124	T	0.70150	0.3191	M	0.80183	2.485	0.39897	D	0.973852	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.77710	-0.2486	10	0.87932	D	0	.	15.5823	0.76455	0.0:0.0:0.424:0.576	.	7616;7616;7545;7545	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	W	7616;262;7545;7616;7545;7228;2140;538	ENSP00000356224:R7616W;ENSP00000356226:R262W;ENSP00000396024:R7545W;ENSP00000265368:R7616W;ENSP00000390975:R7545W;ENSP00000341887:R7228W;ENSP00000349276:R2140W;ENSP00000356220:R538W	ENSP00000265368:R7616W	R	-	1	2	SYNE1	152569169	0.959000	0.32827	0.988000	0.46212	0.382000	0.30200	0.791000	0.26915	0.735000	0.32537	0.591000	0.81541	CGG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		-4.116576	0	-5	51	0	0	1	0	NM_182961	3	6.827062	50	0.056604
TRAF3IP3	80342	broad.mit.edu	hg19	1	209953826	209953826	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr1:209953826C>T	ENST00000367024.1	+	15	1840	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P422S|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P442S|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P422S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	442			integral to membrane	protein binding	breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)	TCAGGCTTTGCCCGTGTGGAG	0.537	0	136.0	131.0	133.0	1	209953826	2203	4300	6503	SO:0001583	missense		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790		30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255			14572659	Standard	XR_247044	Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1324C>T	1.37:g.209953826C>T	ENSP00000355991:p.Pro442Ser	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372367	0.11409	.	.	ENSG00000009790	ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.42	-2.77	0.05877	.	0.613895	0.15409	N	0.263868	T	0.64724	0.2624	L	0.56769	1.78	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.12156	0.007;0.005	T	0.56257	-0.8009	10	0.66056	D	0.02	0.8503	0.8309	0.01130	0.2525:0.2483:0.1132:0.386	.	442;422	Q9Y228;Q9Y228-2	T3JAM_HUMAN;.	S	442;422;442;422	ENSP00000355992:P442S;ENSP00000355993:P422S;ENSP00000355991:P442S;ENSP00000010338:P422S	ENSP00000010338:P422S	P	+	1	0	TRAF3IP3	208020449	0.337000	0.24766	0.035000	0.18076	0.241000	0.25554	-0.044000	0.12023	-0.292000	0.08999	0.655000	0.94253	CCC	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		-15.994303	0	-2	129	0	0	1	0		4	6.605780	95	0.040404
IWS1	55677	broad.mit.edu	hg19	2	128283769	128283769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr2:128283769delA	ENST00000295321.4	-	1	275	c.16delT	c.(16-18)tacfs	p.Y6fs	IWS1_ENST00000455721.2_Intron|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	6		transcription, DNA-dependent	nucleus	DNA binding	cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)	TCGCCGCTGTAATATTCCGAG	0.736	0	16.0	18.0	17.0	2	128283769	2196	4292	6488	SO:0001589	frameshift_variant	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166		25467	protein-coding gene	gene with protein product						Standard	NM_017969	Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.16delT	2.37:g.128283769delA	ENSP00000295321:p.Tyr6fs	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	ENST00000295321.4	37	CCDS2146.1																																																																																			IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	.	.		-6	4					NM_017969	2		4	0.33
NRK	203447	broad.mit.edu	hg19	X	105124216	105124216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chrX:105124216delT	ENST00000428173.2	+	3	451	c.148delT	c.(148-150)tttfs	p.F50fs	NRK_ENST00000536164.1_Frame_Shift_Del_p.F50fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.F50fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	50	Protein kinase.			ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76					GACTGGTGCATTTACAGCTGT	0.378	0	74.0	63.0	66.0	X	105124216	1818	4057	5875	SO:0001589	frameshift_variant	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572		25391	protein-coding gene	gene with protein product		300791				Standard	NM_198465	Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.148delT	X.37:g.105124216delT	ENSP00000434830:p.Phe50fs	Q32ND6|Q5H9K2|Q6ZMP2	ENST00000243300.9	37																																																																																				NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	.	.		5	12					NM_198465	2		4	0.33