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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	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	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
RAP2B	5912	broad.mit.edu	37	3	152880927	152880962	+	In_Frame_Del	DEL	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	-	rs138892831		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:152880927_152880962delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	ENST00000323534.2	+	1	899_934	c.445_480delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	c.(445-480)aacaaagcctcggtagacgagctatttgccgagatcdel	p.NKASVDELFAEI149del	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family			7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		GTCGGCCAAAAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATCGTGCGGCAGA	0.661000																								0							SO:0001651	inframe_deletion			ENST00000323534.2	0	1	hg19	CCDS3170.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	1	0	0	11	84	0	22	0	9.777806e-01	0	53	0	22	2	0	0	0	0	0	0		1	0.999897	35	107	0	22	2	0	0	0	0	0	0		-18.580870	1	1	0	0		1	0	0	0	2.171377	0	0.700000	1.770000	0.700000	0.330000	1.800000e-01	0.540000	0.330000	0.351870	0.330000	0	2.500000e-01	4.400000e-01
LRPAP1	4043	broad.mit.edu	37	4	3516576	3516582	+	Frame_Shift_Del	DEL	AGCTTCT	AGCTTCT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			AGCTTCT	-	AGCTTCT	AGCTTCT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:3516576_3516582delAGCTTCT	ENST00000500728.2	-	7	1054_1060	c.908_914delAGAAGCT	c.(907-915)gagaagctgfs	p.EKL303fs	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1			14					TGCGTGCCTCAGCTTCTCGTGCGCAAT	0.614000																								0							SO:0001589	frameshift_variant			ENST00000500728.2	1	1	hg19	CCDS3371.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4	1	0	0	212	811	0	294	1	1	26	487	0	294	2	0	0	0	0	0	0		1	1.000000	264	850	0	294	2	0	0	0	0	0	0		-3.884088	1	1	0	0		1	1	2	3	2.239288	0	0.700000	1.770000	0.704142	0.590000	5.200000e-01	1.000000	0.600000	0.613255	0.590000	0	5.600000e-01	6.400000e-01
ADCY1	107	broad.mit.edu	37	7	45614538	45614540	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:45614538_45614540delCTT	ENST00000297323.7	+	1	418_420	c.396_398delCTT	c.(394-399)accttc>acc	p.F133del	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)			71				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCAGCCTCACCTTCGCGCTGCTC	0.719000																								0							SO:0001651	inframe_deletion			ENST00000297323.7	1	1	hg19	CCDS34631.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	1	0	0	87	280	0	83			0	0	0	83		0	0	0	0	0	0		1	1.000000	118	290	2	86	22	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	2.170941	0	0.700000	1.770000	0.700000	0.670000	5.500000e-01	0.800000	0.680000	0.680578	0.670000	0	6.100000e-01	7.400000e-01
ADD3	120	broad.mit.edu	37	10	111876161	111876161	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:111876161A>G	ENST00000356080.4	+	4	846	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.Y160C|ADD3_ENST00000277900.8_Missense_Mutation_p.Y160C	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)			29		Breast(234;0.052)|Lung NSC(174;0.223)			GCAAATACCTATATCTCAGTG	0.403000																								0							SO:0001583	missense			ENST00000356080.4	1	1	hg19	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111684	0.56398	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.21734	1.99;1.99;1.99	5.47	5.47	0.80525	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.35341	1.055	0.80722	D	1	D;B	0.89917	1.0;0.451	D;B	0.91635	0.999;0.363	T	0.05162	-1.0902	10	0.51188	T	0.08	-6.7683	10.76	0.46259	0.8583:0.0:0.0:0.1417	.	160;160	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	C	160	ENSP00000353286:Y160C;ENSP00000348381:Y160C;ENSP00000277900:Y160C	ENSP00000277900:Y160C	Y	+	2	0	ADD3	111866151	1.000000	0.71417	0.712000	0.30502	0.858000	0.48976	7.338000	0.79269	2.083000	0.62718	0.460000	0.39030	TAT		TCGA-H6-8124-01A-11D-2396-08	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	1	0	1	122	98	0	20	1	1	88	37	0	20	2		0	0	0	0	0	2	1	1.000000	119	96	0	20	2		0	0	0	0	20	2	-20.000000	1	1	121412	1	29	1	0	1	1	1.526225	1	0.700000	1.770000	0.550562	0.990000	9.000000e-01	1.000000	1.000000	0.985790	0.990000	1	9.500000e-01	1
PRTFDC1	56952	broad.mit.edu	37	10	25138811	25138811	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:25138811C>A	ENST00000320152.6	-	9	668	c.640G>T	c.(640-642)Gtc>Ttc	p.V214F	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R188L	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1			9					TCATTGATGACGCATATGTGC	0.378000																								0							SO:0001583	missense			ENST00000320152.6	1	1	hg19	CCDS7145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.124299|4.124299	0.77436|0.77436	.|.	.|.	ENSG00000099256|ENSG00000099256	ENST00000358336;ENST00000376378|ENST00000320152	D|D	0.99841|0.99232	-7.09|-5.6	5.55|5.55	2.64|2.64	0.31445|0.31445	.|.	.|0.058217	.|0.64402	.|D	.|0.000002	D|D	0.99524|0.99524	0.9830|0.9830	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	B|D	0.13145|0.65815	0.007|0.995	B|D	0.17098|0.67548	0.017|0.952	D|D	0.98786|0.98786	1.0734|1.0734	9|10	0.54805|0.87932	T|D	0.06|0	.|.	7.9935|7.9935	0.30254|0.30254	0.1307:0.7315:0.0:0.1378|0.1307:0.7315:0.0:0.1378	.|.	188|214	Q9NRG1-2|Q9NRG1	.|PRDC1_HUMAN	L|F	188|214	ENSP00000365558:R188L|ENSP00000318602:V214F	ENSP00000351096:R188L|ENSP00000318602:V214F	R|V	-|-	2|1	0|0	PRTFDC1|PRTFDC1	25178817|25178817	0.897000|0.897000	0.30589|0.30589	0.858000|0.858000	0.33744|0.33744	0.984000|0.984000	0.73092|0.73092	1.561000|1.561000	0.36342|0.36342	0.270000|0.270000	0.21984|0.21984	0.563000|0.563000	0.77884|0.77884	CGT|GTC		TCGA-H6-8124-01A-11D-2396-08	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	1	0	1	187	217	0	33	1	1	52	20	0	33	2		0	0	0	0	0	2	1	1.000000	182	216	0	31	2		0	0	0	0	33	2	-20.000000	1	1	0	0		1	0	1	1	1.520219	1	0.700000	1.770000	0.557522	0.880000	7.900000e-01	0.980000	0.890000	0.894992	0.880000	1	8.400000e-01	9.400000e-01
MAP4K2	5871	broad.mit.edu	37	11	64564293	64564293	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:64564293G>A	ENST00000294066.2	-	21	1571	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P486S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2			8					CGAGTAACAGGGTGAATCCAG	0.637000																								0							SO:0001583	missense			ENST00000294066.2	1	1	hg19	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346951	0.82022	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.05996	3.36;3.36	4.51	4.51	0.55191	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	M	0.64997	1.995	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.00223	-1.1903	10	0.59425	D	0.04	.	13.1403	0.59430	0.0:0.0:1.0:0.0	.	486;494	Q86VU3;Q12851	.;M4K2_HUMAN	S	494;486	ENSP00000294066:P494S;ENSP00000366567:P486S	ENSP00000294066:P494S	P	-	1	0	MAP4K2	64320869	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.359000	0.90093	2.247000	0.74100	0.558000	0.71614	CCT		TCGA-H6-8124-01A-11D-2396-08	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	1	0	1	112	232	0	74	1	9.987351e-01	9	15	0	74	2		0	0	0	0	0	2	1	1.000000	108	227	0	72	2		0	0	0	0	74	2	-10.968850	1	1	0	0		1	0	0	0	2.145534	0	0.700000	1.770000	0.697885	0.910000	7.800000e-01	1.000000	1.000000	0.919661	0.910000	1	8.400000e-01	9.900000e-01
ARHGEF17	9828	broad.mit.edu	37	11	73076866	73076866	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:73076866C>T	ENST00000263674.3	+	20	6219	c.5869C>T	c.(5869-5871)Cgg>Tgg	p.R1957W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17			32					CAGCTGCCCACGGGCACCACT	0.652000																								0							SO:0001583	missense			ENST00000263674.3	1	1	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617632	0.46736	.	.	ENSG00000110237	ENST00000263674	T	0.36340	1.26	5.28	4.36	0.52297	WD40 repeat-like-containing domain (1);	0.133526	0.50627	D	0.000118	T	0.48874	0.1524	L	0.53249	1.67	0.19300	N	0.999979	D	0.89917	1.0	D	0.64687	0.928	T	0.34976	-0.9807	10	0.52906	T	0.07	-20.421	8.7897	0.34843	0.4108:0.4532:0.1361:0.0	.	1957	Q96PE2	ARHGH_HUMAN	W	1957	ENSP00000263674:R1957W	ENSP00000263674:R1957W	R	+	1	2	ARHGEF17	72754514	0.256000	0.24012	0.269000	0.24586	0.573000	0.36030	1.436000	0.34980	1.442000	0.47568	0.655000	0.94253	CGG		TCGA-H6-8124-01A-11D-2396-08	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	1	0	1	99	215	0	92	1	1	11	64	0	92	2		0	0	0	0	0	2	1	1.000000	98	213	0	92	2		0	0	0	0	92	2	-20.000000	1	1	0	0		1	1	2	3	2.215795	0	0.700000	1.770000	0.702085	0.900000	7.500000e-01	1.000000	1.000000	0.905737	0.900000	1	8.200000e-01	9.900000e-01
MAML2	84441	broad.mit.edu	37	11	95724867	95724867	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:95724867G>A	ENST00000524717.1	-	3	3444	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)			CTGTGTTCTGGCCTACCACAG	0.428000			T	MECT1, CRTC3	salivary gland mucoepidermoid										Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0							SO:0001819	synonymous_variant			ENST00000524717.1	1	1	hg19	CCDS44714.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1	1	0	1	136	256	0	45	1	1	24	40	0	45	2		0	0	0	0	0	2	1	1.000000	131	265	0	46	2		0	0	0	0	45	2	-20.000000	1	1	120808	3	41	1	1	2	3	2.215795	0	0.700000	1.770000	0.702085	0.990000	8.600000e-01	1.000000	1.000000	0.972284	0.990000	1	9.200000e-01	1
ARHGDIB	397	broad.mit.edu	37	12	15095522	15095522	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000541546.1_Silent_p.D180D|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.D180D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta			15					GCTTGTCATCGTCGGTGAAGA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000228945.4	1	1	hg19	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	G	8.275	0.814158	0.16537	.	.	ENSG00000111348	ENST00000536592	.	.	.	4.73	-9.03	0.00737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6554	19.0707	0.93134	0.8544:0.0:0.1456:0.0	.	.	.	.	X	174	.	.	R	-	1	2	ARHGDIB	14986789	0.273000	0.24181	0.064000	0.19789	0.971000	0.66376	-0.294000	0.08309	-2.089000	0.00860	-0.145000	0.13849	CGA		TCGA-H6-8124-01A-11D-2396-08	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	1	0	1	556	213	0	159	1	1	419	194	0	159	2		0	0	0	0	0	2	1	1.000000	549	211	0	156	2		0	0	0	0	159	2	-20.000000	1	1	121412	11	47	1	0	2	2	2.354604	1	0.700000	1.770000	0.700000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-H6-8124-01A-11D-2396-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	61	27	0	15	1	9.999999e-01	17	3	0	15	2	1	1	207	129	0	435	2	1	1.000000	61	27	0	15	2	1	1	5456	2557	0	15	2	-20.000000	1	1	0	0		1	0	2	2	2.354604	1	0.700000	1.770000	0.700000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57573330	57573330	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:57573330G>A	ENST00000243077.3	+	29	5423	c.4957G>A	c.(4957-4959)Gtc>Atc	p.V1653I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGAGACAGTCGTCTCTGCAGG	0.632000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.57	1.977557	0.34848	.	.	ENSG00000123384	ENST00000243077	D	0.95554	-3.74	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000014	D	0.93579	0.7950	N	0.10664	0.02	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90619	0.4558	10	0.10111	T	0.7	.	16.7799	0.85560	0.0:0.0:1.0:0.0	.	1653	Q07954	LRP1_HUMAN	I	1653	ENSP00000243077:V1653I	ENSP00000243077:V1653I	V	+	1	0	LRP1	55859597	1.000000	0.71417	0.993000	0.49108	0.657000	0.38888	6.500000	0.73687	2.480000	0.83734	0.655000	0.94253	GTC		TCGA-H6-8124-01A-11D-2396-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	72	251	0	60	1	1	26	159	0	60	2		0	0	0	0	0	2	1	1.000000	72	247	0	60	2		0	0	0	0	60	2	-20.000000	1	1	121404	13	40	1	1	4	5	3.965701	1	0.700000	1.770000	0.831176	0.990000	9.200000e-01	1.000000	1.000000	0.994890	0.990000	1	9.900000e-01	1
DUSP6	1848	broad.mit.edu	37	12	89743153	89743153	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:89743153C>A	ENST00000279488.7	-	3	2255	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	DUSP6_ENST00000308385.6_Missense_Mutation_p.D196Y|DUSP6_ENST00000547291.1_Missense_Mutation_p.D217Y|DUSP6_ENST00000547140.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6			16					CTCTCGAAGTCCAGCAGCTGA	0.478000													Colon(132;3456 5224)											0							SO:0001583	missense			ENST00000279488.7	1	1	hg19	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333073	0.81801	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000547291	D;D;D	0.86030	-2.06;-2.06;-2.06	5.98	5.98	0.97165	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.93874	0.8040	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	D	0.93919	0.7204	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	196;342	Q16828-2;Q16828	.;DUS6_HUMAN	Y	342;196;217	ENSP00000279488:D342Y;ENSP00000307835:D196Y;ENSP00000449838:D217Y	ENSP00000279488:D342Y	D	-	1	0	DUSP6	88267284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.835000	0.97688	0.650000	0.86243	GAC		TCGA-H6-8124-01A-11D-2396-08	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	1	0	1	269	227	0	96	1	1	566	67	0	96	2		0	0	0	0	0	2	1	1.000000	268	223	0	96	2		0	0	0	0	96	2	-20.000000	1	1	0	0		1	0	1	1	1.563407	1	0.700000	1.770000	0.538462	0.970000	9.000000e-01	1.000000	0.990000	0.971408	0.970000	1	9.400000e-01	1
N4BP2L2	10443	broad.mit.edu	37	13	33110585	33110585	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:33110585T>C	ENST00000267068.3	-	2	744	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.K194E|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2			16		Lung SC(185;0.0262)			TCAGATTCTTTACAACTGTTC	0.299000																								0							SO:0001583	missense			ENST00000267068.3	1	1	hg19	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342658	0.24339	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.44083	0.93;0.93;0.93	5.58	2.06	0.26882	.	.	.	.	.	T	0.36358	0.0964	L	0.53249	1.67	0.09310	N	0.999997	B;B	0.21071	0.051;0.024	B;B	0.16722	0.016;0.007	T	0.34675	-0.9819	9	0.72032	D	0.01	-18.8345	7.1289	0.25488	0.0:0.1463:0.2835:0.5702	.	194;194	D6R968;Q92802	.;N42L2_HUMAN	E	194	ENSP00000394239:K194E;ENSP00000423362:K194E;ENSP00000267068:K194E	ENSP00000267068:K194E	K	-	1	0	N4BP2L2	32008585	0.013000	0.17824	0.763000	0.31416	0.398000	0.30690	0.010000	0.13242	0.405000	0.25532	0.460000	0.39030	AAA		TCGA-H6-8124-01A-11D-2396-08	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	1	0	1	147	250	0	19	1	1	48	44	0	19	2		0	0	0	0	0	2	1	1.000000	145	249	0	19	2		0	0	0	0	19	2	-20.000000	1	1	0	0		1	1	2	3	2.261976	0	0.700000	1.770000	0.706170	0.990000	9.400000e-01	1.000000	1.000000	0.995890	0.990000	1	9.900000e-01	1
SOHLH2	54937	broad.mit.edu	37	13	36744857	36744857	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:36744857C>T	ENST00000379881.3	-	10	1156	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	SOHLH2_ENST00000554962.1_Silent_p.A433A|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A433A	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2			26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		TCAGAGACAGCGCTGCACTGG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000379881.3	1	1	hg19	CCDS9355.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	0	0	1	301	495	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	299	490	0	84	2		0	0	0	0	85	2	-20.000000	1	1	121412	2	40	1	1	2	3	2.261976	0	0.700000	1.770000	0.706170	0.990000	9.900000e-01	1.000000	1.000000	0.999664	0.990000	1	9.900000e-01	1
COX8C	341947	broad.mit.edu	37	14	93813699	93813699	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:93813699G>A	ENST00000342144.2	+	1	163	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC			5		all_cancers(154;0.083)			TCCCCGCTTCGCCCACTCGGG	0.756000													GBM(134;630 1800 8342 13106 15419)											0							SO:0001583	missense			ENST00000342144.2	0	1	hg19	CCDS9910.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669319	0.14776	.	.	ENSG00000187581	ENST00000342144	.	.	.	2.6	-2.3	0.06785	.	.	.	.	.	T	0.26448	0.0646	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.26430	-1.0103	7	0.62326	D	0.03	.	3.5519	0.07850	0.4705:0.2318:0.2978:0.0	.	29	Q7Z4L0	COX8C_HUMAN	T	29	.	ENSP00000340568:A29T	A	+	1	0	COX8C	92883452	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.535000	0.02210	-0.438000	0.07232	-0.361000	0.07541	GCC		TCGA-H6-8124-01A-11D-2396-08	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412769.1	0	0	0	6	147	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	0.927728	6	112	0	31	2		0	0	0	0	33	2	-9.237671	1	1	116578	2	32	1	0	0	0	2.150613	0	0.700000	1.770000	0.697885	0.110000	4.000000e-02	0.230000	0.110000	0.127769	0.110000	0	7.000000e-02	1.700000e-01
MYH13	8735	broad.mit.edu	37	17	10212619	10212619	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:10212619G>A	ENST00000418404.3	-	34	5264	c.5101C>T	c.(5101-5103)Cgg>Tgg	p.R1701W	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1701W			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle			108					CTGCGGGTCCGCTCCGTCTGT	0.657000																								0							SO:0001583	missense			ENST00000418404.3	1	0	hg19	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504479	0.64410	.	.	ENSG00000006788	ENST00000252172	D	0.85013	-1.93	4.45	-3.48	0.04739	Myosin tail (1);	.	.	.	.	D	0.94958	0.8369	H	0.98525	4.255	0.31829	N	0.624973	D	0.89917	1.0	D	0.91635	0.999	D	0.94056	0.7322	9	0.87932	D	0	.	16.6484	0.85182	0.0:0.0:0.3441:0.6559	.	1701	Q9UKX3	MYH13_HUMAN	W	1701	ENSP00000252172:R1701W	ENSP00000252172:R1701W	R	-	1	2	MYH13	10153344	0.078000	0.21339	0.985000	0.45067	0.779000	0.44077	-0.555000	0.05999	-0.297000	0.08934	-0.182000	0.12963	CGG		TCGA-H6-8124-01A-11D-2396-08	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	1	0	1	74	146	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1.000000	73	144	0	66	2		0	0	0	0	67	2	-2.239613	0	1	0	0		1	0	0	0	2.142607	0	0.700000	1.770000	0.695740	0.940000	7.700000e-01	1.000000	1.000000	0.933538	0.940000	1	8.500000e-01	1
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	GRCh37	CM034930	TP53	M		SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		TCGA-H6-8124-01A-11D-2396-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	144	103	0	96	1	1	54	31	0	96	2	1	1	176	175	0	986	2	1	1.000000	141	100	0	94	2		0	0	0	0	96	2	-20.000000	1	1	121412	3	28	1	0	1	1	1.314500	1	0.700000	1.770000	0.538462	0.970000	9.000000e-01	1.000000	0.990000	0.976208	0.970000	1	9.400000e-01	1
SLC1A6	6511	broad.mit.edu	37	19	15083616	15083616	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:15083616C>T	ENST00000221742.3	-	1	114	c.107G>A	c.(106-108)cGc>cAc	p.R36H	SLC1A6_ENST00000598504.1_Missense_Mutation_p.R36H|SLC1A6_ENST00000430939.2_Silent_p.A40A|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R36H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R36H	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6			42					CAGGCGCGTGCGCAGTGCTCT	0.677000																								0							SO:0001583	missense			ENST00000221742.3	0	1	hg19	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053905	0.55218	0.0	1.16E-4	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.56776	0.44;1.18	4.46	4.46	0.54185	.	0.153858	0.50627	D	0.000114	T	0.53077	0.1774	N	0.24115	0.695	0.43390	D	0.995506	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.60236	0.871;0.871;0.769	T	0.53408	-0.8443	10	0.44086	T	0.13	-13.3673	12.4519	0.55681	0.0:1.0:0.0:0.0	.	36;37;36	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	H	36;36;37	ENSP00000221742:R36H;ENSP00000446175:R36H	ENSP00000221742:R36H	R	-	2	0	SLC1A6	14944616	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	3.133000	0.50531	2.306000	0.77630	0.313000	0.20887	CGC		TCGA-H6-8124-01A-11D-2396-08	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	0	0	0	4	107	1	34		0	0	0	1	34	2		0	0	0	0	0	2	0	0.030501	4	106	1	34	12		0	0	0	1	34	2	-7.628079	1	1	121192	8	37	1	0	1	1	1.405512	1	0.700000	1.770000	0.548193	0.070000	2.000000e-02	0.160000	0.070000	0.083323	0.070000	0	4.000000e-02	1.200000e-01
MYO9B	4650	broad.mit.edu	37	19	17213029	17213029	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:17213029C>A	ENST00000594824.1	+	2	649	c.502C>A	c.(502-504)Cac>Aac	p.H168N	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.H168N|MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000595618.1_Missense_Mutation_p.H168N			Q13459	MYO9B_HUMAN	myosin IXB			39					GAACCTCAAGCACCGCTTCCT	0.572000																								0							SO:0001583	missense			ENST00000594824.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	1.069	-0.670350	0.03403	.	.	ENSG00000099331	ENST00000397274	D	0.86956	-2.19	5.62	4.59	0.56863	Myosin head, motor domain (2);	0.714976	0.12174	N	0.492731	T	0.71634	0.3363	N	0.05467	-0.045	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.001;0.004	T	0.57183	-0.7855	10	0.14656	T	0.56	.	7.2307	0.26040	0.0:0.7392:0.0:0.2608	.	168;168;174	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	N	168	ENSP00000380444:H168N	ENSP00000380444:H168N	H	+	1	0	MYO9B	17074029	0.006000	0.16342	0.261000	0.24466	0.994000	0.84299	0.110000	0.15437	1.376000	0.46267	0.655000	0.94253	CAC		TCGA-H6-8124-01A-11D-2396-08	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	1	0	1	328	323	0	212	1	1	13	26	0	212	2		0	0	0	0	0	2	1	1.000000	323	316	0	210	2		0	0	0	0	212	2	-20.000000	1	1	0	0		1	0	1	1	1.405512	1	0.700000	1.770000	0.548193	0.940000	8.700000e-01	1.000000	1.000000	0.952117	0.940000	1	9.100000e-01	9.900000e-01
ZNF585A	199704	broad.mit.edu	37	19	37644488	37644488	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:37644488T>C	ENST00000356958.4	-	5	571	c.313A>G	c.(313-315)Aat>Gat	p.N105D	ZNF585A_ENST00000355533.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000292841.5_Missense_Mutation_p.N50D|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.N50D			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A			42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CTACATTGATTATGGTCCCAT	0.323000																								0							SO:0001583	missense			ENST00000356958.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.10	2.136367	0.37728	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.27402	3.3;3.34;3.34;1.67	3.76	2.71	0.32032	.	1.711460	0.03779	U	0.261004	T	0.24470	0.0593	L	0.31804	0.96	0.09310	N	1	B	0.20164	0.042	B	0.24006	0.05	T	0.22312	-1.0220	10	0.27082	T	0.32	.	5.4867	0.16753	0.0:0.1002:0.1734:0.7264	.	105	Q6P3V2	Z585A_HUMAN	D	105;50;50;50	ENSP00000349440:N105D;ENSP00000292841:N50D;ENSP00000375998:N50D;ENSP00000347724:N50D	ENSP00000292841:N50D	N	-	1	0	ZNF585A	42336328	0.000000	0.05858	0.179000	0.23059	0.102000	0.19082	-0.109000	0.10840	0.567000	0.29293	0.533000	0.62120	AAT		TCGA-H6-8124-01A-11D-2396-08	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	1	0	1	630	600	0	61	1	7.046121e-01	3	1	0	61	2		0	0	0	0	0	2	1	1.000000	624	600	0	59	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	1	2	3	2.772088	1	0.700000	1.770000	0.766264	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40363276	40363276	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:40363276C>T	ENST00000221347.6	-	32	14801	c.14794G>A	c.(14794-14796)Gag>Aag	p.E4932K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		GCCACAGCCTCGCCGTCCACG	0.652000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591238	0.28357	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	5.05	4.0	0.46444	von Willebrand factor, type D domain (3);	0.000000	0.64402	U	0.000001	T	0.58595	0.2133	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.50482	-0.8823	10	0.06891	T	0.86	.	11.216	0.48827	0.0:0.8151:0.1849:0.0	.	4932	Q9Y6R7	FCGBP_HUMAN	K	4932	ENSP00000221347:E4932K	ENSP00000221347:E4932K	E	-	1	0	FCGBP	45055116	0.037000	0.19845	0.071000	0.20095	0.946000	0.59487	3.060000	0.49955	1.326000	0.45319	0.313000	0.20887	GAG		TCGA-H6-8124-01A-11D-2396-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	116	106	0	36	1	1	11	66	0	36	2		0	0	0	0	0	2	1	1.000000	116	103	0	35	2		0	0	0	0	36	2	-20.000000	1	1	120874	1	30	1	1	2	3	2.772088	1	0.700000	1.770000	0.766264	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF8	93185	broad.mit.edu	37	1	160063798	160063798	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:160063798A>C	ENST00000368086.1	-	3	822	c.606T>G	c.(604-606)ttT>ttG	p.F202L	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.F202L			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8			33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		CAGATCGCCCAAAGGACACTG	0.637000																								0							SO:0001583	missense			ENST00000368086.1	1	1	hg19	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297471	0.60086	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.21932	1.98;1.98;1.98	3.88	-1.42	0.08913	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.156351	0.41938	D	0.000796	T	0.14356	0.0347	L	0.29908	0.895	0.48830	D	0.999713	D	0.76494	0.999	D	0.80764	0.994	T	0.14420	-1.0473	10	0.72032	D	0.01	-3.709	5.1525	0.15017	0.4767:0.1584:0.3649:0.0	.	202	Q969P0	IGSF8_HUMAN	L	202	ENSP00000316664:F202L;ENSP00000357065:F202L;ENSP00000397464:F202L	ENSP00000316664:F202L	F	-	3	2	IGSF8	158330422	0.968000	0.33430	0.906000	0.35671	0.836000	0.47400	0.137000	0.15995	-0.375000	0.07955	-0.438000	0.05819	TTT		TCGA-H6-8124-01A-11D-2396-08	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	1	0	1	192	414	0	163	1	1	59	67	0	163	2		0	0	0	0	0	2	1	1.000000	186	410	0	161	2		0	0	0	0	163	2	-20.000000	1	1	0	0		1	0	0	0	2.144885	0	0.700000	1.770000	0.697885	0.890000	7.900000e-01	1.000000	0.890000	0.899220	0.890000	1	8.400000e-01	9.500000e-01
KLHDC8A	55220	broad.mit.edu	37	1	205312365	205312365	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:205312365G>A	ENST00000367156.3	-	5	1184	c.368C>T	c.(367-369)aCg>aTg	p.T123M	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T123M|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T123M|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A			14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)		GCCTTTGGCCGTGACAGAAAT	0.592000																								0							SO:0001583	missense			ENST00000367156.3	1	1	hg19	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461883	0.63513	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253	T;T;T	0.67865	-0.29;-0.29;-0.29	5.65	5.65	0.86999	Kelch-type beta propeller (1);	0.147910	0.64402	D	0.000012	T	0.67813	0.2933	L	0.59436	1.845	0.53688	D	0.999975	D	0.56287	0.975	B	0.43225	0.412	T	0.72931	-0.4142	10	0.66056	D	0.02	-13.9286	19.3222	0.94246	0.0:0.0:1.0:0.0	.	123	Q8IYD2	KLD8A_HUMAN	M	123	ENSP00000356123:T123M;ENSP00000356124:T123M;ENSP00000442229:T123M	ENSP00000356123:T123M	T	-	2	0	KLHDC8A	203578988	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.523000	0.67099	2.646000	0.89796	0.655000	0.94253	ACG		TCGA-H6-8124-01A-11D-2396-08	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	1	0	1	271	517	1	187	0	5.601188e-01	0	5	1	187	2		0	0	0	0	0	2	1	1.000000	266	512	1	186	15		0	0	0	1	187	2	-20.000000	1	1	0	0		1	1	2	3	2.235718	0	0.700000	1.770000	0.704142	0.990000	8.900000e-01	1.000000	1.000000	0.979284	0.990000	1	9.400000e-01	1
PANK4	55229	broad.mit.edu	37	1	2444410	2444410	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:2444410C>T	ENST00000378466.3	-	13	1656	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	PANK4_ENST00000435556.3_Silent_p.L509L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4			23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)			CCTCCCAGCCCAGCGCGTCCA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000378466.3	1	1	hg19	CCDS42.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1	1	0	1	330	640	0	294	1	9.999485e-01	6	25	0	294	2		0	0	0	0	0	2	1	1.000000	326	626	0	289	2		0	0	0	0	294	2	-20.000000	1	1	0	0		1	1	2	3	2.188926	0	0.700000	1.770000	0.701046	0.970000	8.800000e-01	1.000000	1.000000	0.967722	0.970000	1	9.200000e-01	1
AJAP1	55966	broad.mit.edu	37	1	4772528	4772528	+	Missense_Mutation	SNP	G	G	A	rs138033447		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:4772528G>A	ENST00000378191.4	+	2	979	c.598G>A	c.(598-600)Gtt>Att	p.V200I	AJAP1_ENST00000378190.3_Missense_Mutation_p.V200I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1			24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)			ATTTCCGGGCGTTTACGGCCC	0.652000																								0							SO:0001583	missense			ENST00000378191.4	1	1	hg19	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.194097	0.00026	2.27E-4	0.0	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.40225	1.04;1.04	5.04	-10.1	0.00402	.	1.402030	0.05157	N	0.497146	T	0.11239	0.0274	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09122	-1.0689	10	0.02654	T	1	3.1249	2.9387	0.05823	0.0974:0.3502:0.3527:0.1997	.	200	Q9UKB5	AJAP1_HUMAN	I	200	ENSP00000367432:V200I;ENSP00000367433:V200I	ENSP00000367432:V200I	V	+	1	0	AJAP1	4672388	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-3.993000	0.00318	-6.103000	0.00006	-0.657000	0.03884	GTT		TCGA-H6-8124-01A-11D-2396-08	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	1	0	1	55	88	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	1.000000	55	84	0	42	2		0	0	0	0	42	2	-20.000000	1	1	121344	1	29	1	1	2	3	2.188926	0	0.700000	1.770000	0.701046	0.990000	8.700000e-01	1.000000	1.000000	0.988793	0.990000	1	9.800000e-01	1
DEPDC1	55635	broad.mit.edu	37	1	68952619	68952619	+	Splice_Site	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:68952619C>A	ENST00000456315.2	-	6	884		c.e6+1		DEPDC1_ENST00000370966.5_Splice_Site	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1			13					ATTTAACTTACAATTTGCTAG	0.328000																								0							SO:0001630	splice_region_variant			ENST00000456315.2	1	1	hg19	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196068	0.78902	.	.	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1258	0.93384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DEPDC1	68725207	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.994000	0.76251	2.534000	0.85438	0.585000	0.79938	.		TCGA-H6-8124-01A-11D-2396-08	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	1	0	1	123	280	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	116	263	0	27	2		0	0	0	0	39	2	-20.000000	1	1	0	0		1	1	2	3	2.225223	0	0.700000	1.770000	0.704142	0.880000	7.500000e-01	1.000000	0.880000	0.888090	0.880000	1	8.100000e-01	9.600000e-01
XKR7	343702	broad.mit.edu	37	20	30584387	30584387	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:30584387C>T	ENST00000562532.2	+	3	1041	c.867C>T	c.(865-867)gaC>gaT	p.D289D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7			34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		ACTCGCGGGACGACAAGCGGC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000562532.2	1	1	hg19	CCDS33459.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	1	0	0	73	198	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1.000000	72	193	0	71	2		0	0	0	0	72	2	-20.000000	1	1	0	0		1	0	0	0	2.158459	0	0.700000	1.770000	0.697885	0.760000	6.100000e-01	0.910000	0.770000	0.767773	0.760000	0	6.800000e-01	8.400000e-01
PXDN	7837	broad.mit.edu	37	2	1670184	1670184	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:1670184C>T	ENST00000252804.4	-	10	1143	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			TGGCCTGTGGCGCTGCACTCC	0.587000																								0							SO:0001583	missense			ENST00000252804.4	1	1	hg19	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587546	0.66105	.	.	ENSG00000130508	ENST00000252804	T	0.68331	-0.32	5.09	4.21	0.49690	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.176187	0.49916	N	0.000139	T	0.73976	0.3656	M	0.67625	2.065	0.46542	D	0.999097	D;B	0.64830	0.994;0.127	P;B	0.59761	0.863;0.178	T	0.75243	-0.3386	10	0.87932	D	0	-31.0361	7.7167	0.28708	0.1612:0.756:0.0:0.0828	.	365;365	Q92626-2;Q92626	.;PXDN_HUMAN	T	365	ENSP00000252804:A365T	ENSP00000252804:A365T	A	-	1	0	PXDN	1649191	1.000000	0.71417	0.987000	0.45799	0.734000	0.41952	4.819000	0.62664	1.140000	0.42260	0.655000	0.94253	GCC		TCGA-H6-8124-01A-11D-2396-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1	17	101	0	52	0	9.991124e-01	0	74	0	52	2		0	0	0	0	0	2	1	0.999970	17	98	0	49	2		0	0	0	0	52	2	-20.000000	1	1	0	0		1	0	1	1	1.893316	1	0.700000	1.770000	0.648300	0.350000	2.100000e-01	0.520000	0.350000	0.363904	0.350000	0	2.700000e-01	4.400000e-01
PLCD4	84812	broad.mit.edu	37	2	219500518	219500518	+	Splice_Site	SNP	G	G	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:219500518G>C	ENST00000450993.2	+	14	2235		c.e14-1		PLCD4_ENST00000417849.1_Splice_Site|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Splice_Site	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4			23		Renal(207;0.0915)			CCTGACTACAGGTGATCAGCG	0.532000																								0							SO:0001630	splice_region_variant			ENST00000450993.2	1	1	hg19	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774719	0.70107	.	.	ENSG00000115556	ENST00000450993;ENST00000417849;ENST00000432688	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1177	0.89561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCD4	219208762	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.601000	0.98297	2.676000	0.91093	0.655000	0.94253	.		TCGA-H6-8124-01A-11D-2396-08	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1	1	0	1	48	54	0	23	1	7.685852e-01	2	3	0	23	2		0	0	0	0	0	2	1	1.000000	47	53	0	23	2		0	0	0	0	23	2	-20.000000	1	1	0	0		1	0	1	1	1.853026	1	0.700000	1.770000	0.643917	0.990000	8.900000e-01	1.000000	1.000000	0.992078	0.990000	1	9.900000e-01	1
TOPBP1	11073	broad.mit.edu	37	3	133327737	133327737	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:133327737G>A	ENST00000260810.5	-	26	4374	c.4243C>T	c.(4243-4245)Ctt>Ttt	p.L1415F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1			40					CCTGACTGAAGAAGGCGTTTG	0.368000								Other conserved DNA damage response genes					Ovarian(21;193 658 4424 15423 17362)											0							SO:0001583	missense			ENST00000260810.5	1	1	hg19	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819176	0.90873	.	.	ENSG00000163781	ENST00000260810	T	0.28069	1.63	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62358	-0.6871	10	0.52906	T	0.07	.	19.5504	0.95315	0.0:0.0:1.0:0.0	.	1415	Q92547	TOPB1_HUMAN	F	1415	ENSP00000260810:L1415F	ENSP00000260810:L1415F	L	-	1	0	TOPBP1	134810427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.006000	0.88564	2.612000	0.88384	0.655000	0.94253	CTT		TCGA-H6-8124-01A-11D-2396-08	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	1	0	1	86	178	0	12	1	1	29	33	0	12	2		0	0	0	0	0	2	1	1.000000	87	176	0	11	2		0	0	0	0	12	2	-20.000000	1	1	0	0		1	0	0	0	2.171377	0	0.700000	1.770000	0.700000	0.920000	7.600000e-01	1.000000	1.000000	0.923053	0.920000	1	8.400000e-01	1
CELSR3	1951	broad.mit.edu	37	3	48699138	48699138	+	Silent	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:48699138C>T	ENST00000164024.4	-	1	1210	c.930G>A	c.(928-930)gcG>gcA	p.A310A	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.A310A	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	p.A310A(1)		83					GTGCCCGGTTCGCCGAGGTTA	0.706000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000164024.4	1	1	hg19	CCDS2775.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1	101	503	1	180	0	2.675188e-01	0	6	1	180	2	1	9.999669e-01	18	57	0	50	2	1	1.000000	100	499	1	178	13		0	0	0	1	180	2	-3.027413	1	1	0	0		1	0	0	0	2.171377	0	0.700000	1.770000	0.700000	0.470000	3.900000e-01	0.560000	0.480000	0.480554	0.470000	0	4.300000e-01	5.200000e-01
ZFYVE28	57732	broad.mit.edu	37	4	2306490	2306490	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:2306490G>A	ENST00000290974.2	-	8	1916	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S456F|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S496F|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28			31					AGAGTCCAGGGAAGTGGGCGA	0.667000																								0							SO:0001583	missense			ENST00000290974.2	1	1	hg19	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420143	0.42918	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.60424	0.21;0.19;0.21	4.21	3.37	0.38596	.	0.815729	0.11518	N	0.556019	T	0.51601	0.1684	L	0.50333	1.59	0.09310	N	1	B;P	0.45902	0.004;0.868	B;B	0.43052	0.007;0.406	T	0.46359	-0.9197	10	0.72032	D	0.01	.	6.0708	0.19887	0.1057:0.2096:0.6846:0.0	.	496;526	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	F	526;496;456	ENSP00000290974:S526F;ENSP00000425706:S496F;ENSP00000426299:S456F	ENSP00000290974:S526F	S	-	2	0	ZFYVE28	2276288	0.032000	0.19561	0.001000	0.08648	0.011000	0.07611	2.501000	0.45389	0.997000	0.38969	0.306000	0.20318	TCC		TCGA-H6-8124-01A-11D-2396-08	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	1	0	1	163	382	0	138	1	4.710303e-01	2	3	0	138	2		0	0	0	0	0	2	1	1.000000	161	378	0	137	2		0	0	0	0	138	2	-20.000000	1	1	0	0		1	1	2	3	2.239288	0	0.700000	1.770000	0.704142	0.860000	7.500000e-01	1.000000	0.860000	0.871507	0.860000	1	8.000000e-01	9.300000e-01
GRID2	2895	broad.mit.edu	37	4	94006305	94006305	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:94006305G>A	ENST00000282020.4	+	3	662	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2			100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)			GGACTCACCCGGAGCAACAGG	0.537000																								0							SO:0001583	missense			ENST00000282020.4	1	1	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783512	0.70222	.	.	ENSG00000152208	ENST00000282020	D	0.85955	-2.05	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.168825	0.50627	D	0.000117	T	0.75324	0.3834	N	0.14661	0.345	0.80722	D	1	P;P	0.46987	0.888;0.888	B;B	0.40009	0.185;0.316	T	0.75351	-0.3348	10	0.25106	T	0.35	.	19.1731	0.93588	0.0:0.0:1.0:0.0	.	135;76	O43424;B4DYB9	GRID2_HUMAN;.	Q	135	ENSP00000282020:R135Q	ENSP00000282020:R135Q	R	+	2	0	GRID2	94225328	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.748000	0.55142	2.613000	0.88420	0.655000	0.94253	CGG		TCGA-H6-8124-01A-11D-2396-08	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	0	0	1	222	445	1	100		0	0	0	1	100	2		0	0	0	0	0	2	1	1.000000	221	437	1	100	21		0	0	0	1	100	2	-18.194470	1	1	0	0		1	1	2	3	2.239288	0	0.700000	1.770000	0.704142	0.960000	8.500000e-01	1.000000	1.000000	0.958031	0.960000	1	9.000000e-01	1
IL12B	3593	broad.mit.edu	37	5	158750144	158750144	+	Silent	SNP	G	G	A	rs142017503		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:158750144G>A	ENST00000231228.2	-	3	737	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B			11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TTAGAACCTCGCCTCCTTTGT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000231228.2	1	1	hg19	CCDS4346.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	1	0	1	120	226	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1.000000	119	223	0	41	2		0	0	0	0	43	2	-20.000000	1	1	121410	2	37	1	1	2	3	2.204364	0	0.700000	1.770000	0.701046	0.980000	8.400000e-01	1.000000	1.000000	0.968476	0.980000	1	9.100000e-01	1
DLL1	28514	broad.mit.edu	37	6	170597430	170597430	+	Silent	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:170597430G>A	ENST00000366756.3	-	4	900	c.567C>T	c.(565-567)tcC>tcT	p.S189S	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)			33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)			GGCAGAAAACGGAGCAGCCCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000366756.3	1	1	hg19	CCDS5313.1																																																																																				TCGA-H6-8124-01A-11D-2396-08	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1	1	0	1	147	167	0	117	1	9.999420e-01	7	14	0	117	2		0	0	0	0	0	2	1	1.000000	145	166	0	116	2		0	0	0	0	117	2	-20.000000	1	1	0	0		1	0	1	1	1.509146	1	0.700000	1.770000	0.540933	0.860000	7.600000e-01	0.970000	0.870000	0.871460	0.860000	1	8.100000e-01	9.200000e-01
CUX1	1523	broad.mit.edu	37	7	101870648	101870648	+	Splice_Site	SNP	A	A	C			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:101870648A>C	ENST00000292535.7	+	21	3170	c.3132A>C	c.(3130-3132)gaA>gaC	p.E1044D	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Splice_Site_p.E942D|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Splice_Site_p.E1055D|CUX1_ENST00000549414.2_Splice_Site_p.E1022D|CUX1_ENST00000550008.2_Splice_Site_p.E988D|CUX1_ENST00000556210.1_Splice_Site_p.E886D	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1			70					TAATTACAGAAAGCACTCCAA	0.512000																								0							SO:0001630	splice_region_variant			ENST00000292535.7	1	0	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417793	0.42918	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.18;0.17;0.17;0.16;0.17;0.16	5.67	0.0822	0.14428	.	0.111571	0.64402	D	0.000015	T	0.37972	0.1023	L	0.43152	1.355	0.53688	D	0.999971	B;B	0.06786	0.001;0.0	B;B	0.09377	0.003;0.004	T	0.07654	-1.0761	10	0.21540	T	0.41	.	2.1663	0.03838	0.5209:0.1682:0.2064:0.1045	.	1044;1055	P39880;P39880-3	CUX1_HUMAN;.	D	1055;1044;1022;988;942;886	ENSP00000353401:E1055D;ENSP00000292535:E1044D;ENSP00000446630:E1022D;ENSP00000447373:E988D;ENSP00000450125:E942D;ENSP00000451558:E886D	ENSP00000292535:E1044D	E	+	3	2	CUX1	101657368	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.791000	0.38744	0.402000	0.25451	0.533000	0.62120	GAA		TCGA-H6-8124-01A-11D-2396-08	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	1	0	1	862	1733	0	218	0	9.997194e-01	0	27	0	218	2		0	0	0	0	0	2	1	1.000000	856	1718	0	218	2		0	0	0	0	218	2	-20.000000	1	1	0	0		1						0.700000	1.770000									0	0
POM121L12	285877	broad.mit.edu	37	7	53103972	53103972	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:53103972G>A	ENST00000408890.4	+	1	624	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12			61					GTCTCAGACAGCAAGGGTGGC	0.667000																								0							SO:0001583	missense			ENST00000408890.4	1	1	hg19	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253636	0.22965	.	.	ENSG00000221900	ENST00000408890	T	0.11604	2.76	1.68	0.545	0.17190	.	.	.	.	.	T	0.04770	0.0129	N	0.20986	0.625	0.09310	N	1	P	0.50710	0.938	B	0.37451	0.25	T	0.31475	-0.9942	9	0.11182	T	0.66	.	4.9354	0.13937	0.0:0.0:0.5027:0.4973	.	203	Q8N7R1	P1L12_HUMAN	N	203	ENSP00000386133:S203N	ENSP00000386133:S203N	S	+	2	0	POM121L12	53071466	0.001000	0.12720	0.003000	0.11579	0.080000	0.17528	0.642000	0.24735	0.131000	0.18576	0.561000	0.74099	AGC		TCGA-H6-8124-01A-11D-2396-08	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	1	0	0	221	406	0	173		0	0	0	0	173	2		0	0	0	0	0	2	1	1.000000	217	397	0	171	2		0	0	0	0	173	2	-20.000000	1	1	120902	1	32	1	0	0	0	2.170941	0	0.700000	1.770000	0.700000	0.990000	8.900000e-01	1.000000	1.000000	0.981761	0.990000	1	9.400000e-01	1
ADAM22	53616	broad.mit.edu	37	7	87564445	87564445	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:87564445G>A	ENST00000265727.7	+	2	269	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ADAM22_ENST00000439864.1_Missense_Mutation_p.E64K|ADAM22_ENST00000398201.4_Missense_Mutation_p.E64K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E64K|ADAM22_ENST00000398209.3_Missense_Mutation_p.E64K|ADAM22_ENST00000398204.4_Missense_Mutation_p.E64K			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22			53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)		CGGCGAAGACGAAAGTCGGCA	0.687000																								0							SO:0001583	missense			ENST00000265727.7	1	1	hg19	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114188	0.77210	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.17528	4.45;3.6;2.27;4.45;4.45;4.46;4.46;4.44	4.94	1.94	0.25998	.	0.154004	0.43416	N	0.000575	T	0.30198	0.0757	L	0.55213	1.73	0.24151	N	0.995698	D;D;D;P;P;D	0.76494	0.99;0.979;0.983;0.639;0.94;0.999	P;P;P;B;P;D	0.69142	0.869;0.761;0.846;0.245;0.535;0.962	T	0.02179	-1.1200	10	0.59425	D	0.04	.	8.3943	0.32548	0.0851:0.2937:0.6211:0.0	.	116;64;64;64;64;64	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	K	64;64;64;64;64;64;64;31	ENSP00000381262:E64K;ENSP00000391334:E64K;ENSP00000413899:E64K;ENSP00000381260:E64K;ENSP00000265727:E64K;ENSP00000315900:E64K;ENSP00000381267:E64K;ENSP00000381261:E31K	ENSP00000265727:E64K	E	+	1	0	ADAM22	87402381	1.000000	0.71417	0.909000	0.35828	0.748000	0.42578	1.511000	0.35801	0.779000	0.33543	0.655000	0.94253	GAA		TCGA-H6-8124-01A-11D-2396-08	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	1	0	0	94	331	0	66	0	6.851146e-01	0	10	0	66	2		0	0	0	0	0	2	1	1.000000	92	328	0	66	2		0	0	0	0	66	2	-20.000000	1	1	0	0		1						0.700000	1.770000									0	0
ADCK5	203054	broad.mit.edu	37	8	145616829	145616829	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:145616829G>A	ENST00000308860.6	+	8	892	c.848G>A	c.(847-849)cGc>cAc	p.R283H	ADCK5_ENST00000526231.2_3'UTR|MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5			8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		AATGAGGGCCGCAACGCAGAG	0.677000																								0							SO:0001583	missense			ENST00000308860.6	0	1	hg19	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051513	0.19827	2.31E-4	0.0	ENSG00000173137	ENST00000308860	T	0.54071	0.59	5.17	3.38	0.38709	ABC-1 (1);Protein kinase-like domain (1);	0.207878	0.39020	N	0.001489	T	0.42154	0.1190	L	0.41710	1.295	0.80722	D	1	B	0.21688	0.059	B	0.21546	0.035	T	0.25363	-1.0134	10	0.48119	T	0.1	-20.9067	9.5897	0.39539	0.1731:0.0:0.8269:0.0	.	283	Q3MIX3	ADCK5_HUMAN	H	283	ENSP00000310547:R283H	ENSP00000310547:R283H	R	+	2	0	ADCK5	145587637	0.929000	0.31497	0.509000	0.27700	0.016000	0.09150	1.319000	0.33655	0.589000	0.29677	-0.258000	0.10820	CGC		TCGA-H6-8124-01A-11D-2396-08	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	0	0	0	3	42	0	10	0	4.349692e-01	0	17	0	10	2		0	0	0	0	0	2	1	0.812618	3	42	0	10	2		0	0	0	0	10	2	-7.795558	1	1	117324	1	16	1	1	2	3	2.208213	0	0.700000	1.770000	0.702085	0.220000	6.000000e-02	0.550000	0.200000	0.250019	0.220000	0	1.200000e-01	3.600000e-01
HR	55806	broad.mit.edu	37	8	21986391	21986391	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:21986391C>T	ENST00000381418.4	-	2	1773	c.293G>A	c.(292-294)cGc>cAc	p.R98H	HR_ENST00000312841.8_Missense_Mutation_p.R98H|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated			27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)			CTCCTTCCAGCGCAGTCCCTC	0.652000																								0							SO:0001583	missense			ENST00000381418.4	1	1	hg19	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344423	0.41498	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.74106	-0.8;-0.81	4.72	2.85	0.33270	.	0.160475	0.29692	N	0.011458	T	0.59459	0.2195	L	0.34521	1.04	0.27888	N	0.939439	B;B;B	0.18741	0.023;0.03;0.017	B;B;B	0.14578	0.004;0.011;0.005	T	0.52852	-0.8520	10	0.51188	T	0.08	-7.088	6.2548	0.20867	0.0:0.7605:0.0:0.2395	.	98;98;98	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	H	98	ENSP00000370826:R98H;ENSP00000326765:R98H	ENSP00000326765:R98H	R	-	2	0	HR	22042336	0.048000	0.20356	0.996000	0.52242	0.905000	0.53344	-0.070000	0.11523	0.549000	0.28973	-0.258000	0.10820	CGC		TCGA-H6-8124-01A-11D-2396-08	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	1	32	299	0	100	1	2.230885e-01	2	7	0	100	2		0	0	0	0	0	2	1	1.000000	32	291	0	99	2		0	0	0	0	100	2	-20.000000	1	1	121402	1	27	1	1	2	3	2.208213	0	0.700000	1.770000	0.702085	0.270000	1.900000e-01	0.400000	0.280000	0.291762	0.270000	0	2.300000e-01	3.300000e-01
CLU	1191	broad.mit.edu	37	8	27463908	27463908	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:27463908C>T	ENST00000316403.10	-	4	785	c.380G>A	c.(379-381)cGc>cAc	p.R127H	CLU_ENST00000546343.1_Missense_Mutation_p.R138H|CLU_ENST00000405140.3_Missense_Mutation_p.R127H|CLU_ENST00000523500.1_Missense_Mutation_p.R127H|CLU_ENST00000560366.1_Missense_Mutation_p.R179H			P10909	CLUS_HUMAN	clusterin			21		Ovarian(32;2.61e-05)			TCTGCAGACGCGTGCGTAGAA	0.572000																								0							SO:0001583	missense			ENST00000316403.10	0	1	hg19	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775112	0.70107	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000523589;ENST00000520796;ENST00000519742;ENST00000520491;ENST00000522413	T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.52	2.27	0.28462	Clusterin, N-terminal (1);	0.111708	0.52532	D	0.000064	T	0.40322	0.1112	M	0.78637	2.42	0.09310	N	1	D;D;D	0.58620	0.979;0.979;0.983	P;P;P	0.51974	0.558;0.558;0.686	T	0.29088	-1.0023	10	0.87932	D	0	-8.8843	5.2716	0.15628	0.0:0.5819:0.1628:0.2554	.	179;138;127	P10909-2;P10909-5;P10909	.;.;CLUS_HUMAN	H	179;138;127;127;127;127;127;127;127	ENSP00000446413:R138H;ENSP00000385419:R127H;ENSP00000429620:R127H;ENSP00000431070:R127H;ENSP00000429336:R127H;ENSP00000431026:R127H;ENSP00000429881:R127H;ENSP00000428779:R127H	ENSP00000315130:R179H	R	-	2	0	CLU	27519825	0.005000	0.15991	0.034000	0.17996	0.973000	0.67179	1.095000	0.30964	0.687000	0.31509	0.655000	0.94253	CGC		TCGA-H6-8124-01A-11D-2396-08	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	0	0	0	9	628	0	134	1	9.998469e-01	6	1227	0	134	2		0	0	0	0	0	2	1	0.993969	9	621	0	131	2		0	0	0	0	134	2	-2.924029	1	0	121412	6	39	1	1	2	3	2.208213	0	0.700000	1.770000	0.702085	0.030000	0	0.080000	0.040000	0.054634	0.030000	0	2.000000e-02	6.000000e-02
TGFBR1	7046	broad.mit.edu	37	9	101911535	101911535	+	Missense_Mutation	SNP	G	G	A	rs113605875		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:101911535G>A	ENST00000374994.4	+	9	1577	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1			27		Acute lymphoblastic leukemia(62;0.0559)			ACAGCATTGCGGATTAAGAAA	0.373000																								0		GRCh37	CM050757|CM063198	TGFBR1	M	rs113605875	SO:0001583	missense			ENST00000374994.4	0	1	hg19	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907570	0.92107	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.916;0.999	D	0.95213	0.8327	10	0.87932	D	0	.	18.8853	0.92375	0.0:0.0:1.0:0.0	.	410;487	P36897-3;P36897	.;TGFR1_HUMAN	Q	487;449;410;491;418	ENSP00000364133:R487Q;ENSP00000364129:R410Q;ENSP00000447297:R491Q;ENSP00000450052:R418Q	ENSP00000364129:R410Q	R	+	2	0	TGFBR1	100951356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	CGG		TCGA-H6-8124-01A-11D-2396-08	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	1	0	0	8	176	0	24	1	7.031618e-01	2	52	0	24	2	1	9.957717e-01	16	341	1	782	4	1	0.989853	8	176	0	24	2		0	0	0	0	24	2	-2.909994	1	1	0	0		1	0	1	1	1.411584	1	0.700000	1.770000	0.538462	0.080000	3.000000e-02	0.150000	0.080000	0.089437	0.080000	0	5.000000e-02	1.200000e-01
FLNA	2316	broad.mit.edu	37	X	153587767	153587767	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:153587767C>A	ENST00000369850.3	-	25	4386	c.4150G>T	c.(4150-4152)Ggc>Tgc	p.G1384C	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.G1384C|FLNA_ENST00000344736.4_Missense_Mutation_p.G1384C|FLNA_ENST00000360319.4_Missense_Mutation_p.G1384C	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CCGCCCGTGCCAGCTCCCCTG	0.647000																								0							SO:0001583	missense			ENST00000369850.3	1	1	hg19	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277760	0.80692	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.36	5.36	0.76844	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99811	1.1041	10	0.87932	D	0	.	18.1702	0.89743	0.0:1.0:0.0:0.0	.	1384;1384	P21333-2;P21333	.;FLNA_HUMAN	C	1384;1357;1384;1384;1384	ENSP00000353467:G1384C;ENSP00000416926:G1384C;ENSP00000358866:G1384C;ENSP00000358863:G1384C	ENSP00000358863:G1384C	G	-	1	0	FLNA	153240961	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.788000	0.85771	2.229000	0.72834	0.600000	0.82982	GGC		TCGA-H6-8124-01A-11D-2396-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1	560	1080	0	532	1	1	2	882	0	532	2		0	0	0	0	0	2	1	1.000000	551	1061	0	529	2		0	0	0	0	532	2	-20.000000	1	1	0	0		1	0	1	1			0.700000	1.770000	0.700000	0.970000	9.000000e-01	1.000000	1.000000	0.970993	0.970000	1	9.300000e-01	1
ARAF	369	broad.mit.edu	37	X	47426043	47426043	+	Missense_Mutation	SNP	G	G	A	rs66933407		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:47426043G>A	ENST00000377045.4	+	7	757	c.563G>A	c.(562-564)cGc>cAc	p.R188H	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	p.R188H(1)		29				Adenosine triphosphate(DB00171)	GGCAGCCCCCGCACCCAGCAC	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000377045.4	1	1	hg19	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.341094	0.01277	.	.	ENSG00000078061	ENST00000377045	T	0.74421	-0.84	5.37	2.02	0.26589	.	1.428110	0.03652	N	0.241251	T	0.59729	0.2215	N	0.22421	0.69	0.09310	N	0.999999	P;B	0.34629	0.46;0.0	B;B	0.26517	0.07;0.001	T	0.47209	-0.9135	10	0.29301	T	0.29	.	8.5422	0.33399	0.1819:0.0:0.6845:0.1336	.	188;54	P10398;B4DV85	ARAF_HUMAN;.	H	188	ENSP00000366244:R188H	ENSP00000366244:R188H	R	+	2	0	ARAF	47310987	0.896000	0.30565	0.181000	0.23098	0.004000	0.04260	2.153000	0.42282	0.100000	0.17581	-1.195000	0.01675	CGC		TCGA-H6-8124-01A-11D-2396-08	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1	1	0	1	72	102	0	34	0	1	0	160	0	34	2		0	0	0	0	0	2	1	1.000000	71	98	0	34	2		0	0	0	0	34	2	-20.000000	1	1	120406	6	32	1	0	1	1			0.700000	1.770000	0.700000	0.990000	9.700000e-01	1.000000	1.000000	0.998334	0.990000	1	9.900000e-01	1
CLCN5	1184	broad.mit.edu	37	X	49854844	49854844	+	Missense_Mutation	SNP	G	G	A	rs138935720		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:49854844G>A	ENST00000307367.2	+	10	1897	c.1606G>A	c.(1606-1608)Gtg>Atg	p.V536M	CLCN5_ENST00000376108.3_Missense_Mutation_p.V536M|CLCN5_ENST00000376088.3_Missense_Mutation_p.V606M|CLCN5_ENST00000376091.3_Missense_Mutation_p.V606M			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5			30	Ovarian(276;0.236)				AGAATACATCGTGCCTCTGAT	0.502000																								0							SO:0001583	missense			ENST00000307367.2	1	1	hg19	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566129	0.86439	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	5.79	5.79	0.91817	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.921;0.996	D	0.98214	1.0474	10	0.62326	D	0.03	-0.1014	17.6718	0.88220	0.0:0.0:1.0:0.0	.	536;606	P51795;P51795-2	CLCN5_HUMAN;.	M	606;438;606;536;536	ENSP00000365256:V606M;ENSP00000365259:V606M;ENSP00000365276:V536M;ENSP00000304257:V536M	ENSP00000304257:V536M	V	+	1	0	CLCN5	49741584	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.705000	0.98719	2.445000	0.82738	0.600000	0.82982	GTG		TCGA-H6-8124-01A-11D-2396-08	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1	1	0	1	396	719	0	157	0	6.903426e-01	0	6	0	157	2		0	0	0	0	0	2	1	1.000000	394	708	0	155	2		0	0	0	0	157	2	-20.000000	1	1	121410	4	41	1	0	1	1			0.700000	1.770000	0.700000	0.990000	9.200000e-01	1.000000	1.000000	0.989902	0.990000	1	9.600000e-01	1
