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
PDCD4	27250	broad.mit.edu	37	10	112641004	112641004	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:112641004A>T	ENST00000280154.7	+	3	331	c.57A>T	c.(55-57)ttA>ttT	p.L19F	PDCD4_ENST00000393104.2_Missense_Mutation_p.L8F	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)			13		Breast(234;0.0848)|Lung NSC(174;0.238)			CTGATAACTTAAGTGACTCTC	0.308000													Ovarian(115;1498 1603 9363 40056 40885)											0							SO:0001583	missense			ENST00000280154.7	0	1	hg19	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153586	0.57259	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.40756	1.02;1.12	5.42	4.29	0.51040	.	0.071705	0.56097	D	0.000024	T	0.35422	0.0931	N	0.20685	0.6	0.51233	D	0.999912	D;P	0.65815	0.995;0.845	P;B	0.56278	0.795;0.261	T	0.13415	-1.0510	10	0.10377	T	0.69	-8.0641	8.1263	0.31001	0.7861:0.0:0.2139:0.0	.	19;8	Q53EL6;B5ME91	PDCD4_HUMAN;.	F	19;8	ENSP00000280154:L19F;ENSP00000376816:L8F	ENSP00000280154:L19F	L	+	3	2	PDCD4	112630994	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.052000	0.30429	1.002000	0.39104	-0.334000	0.08254	TTA		TCGA-IB-A5ST-01A-11D-A32N-08	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	0	0	0	6	342	0	50	1	8.238542e-01	21	162	0	50	2		0	0	0	0	0	2	1	0.963058	6	335	0	50	2		0	0	0	0	50	2	-6.340241	1	1	0	0		1	1	2	3	1.998000	0	0.100000	2.040000	0.106256	0.390000	0.150000	1.000000	0.330000	0.460762	0.390000	0	0.250000	0.650000
ACSL5	51703	broad.mit.edu	37	10	114185121	114185121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:114185121G>A	ENST00000393081.1	+	18	1926	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5			21		Colorectal(252;0.117)|Breast(234;0.222)			ATCATCGACCGTAAAAAGAAC	0.388000																								0							SO:0001583	missense			ENST00000393081.1	0	1	hg19	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397637	0.96009	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.76	5.76	0.90799	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.89230	0.6656	H	0.99944	5.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.94232	0.7477	10	0.87932	D	0	-12.4887	19.9576	0.97228	0.0:0.0:1.0:0.0	.	322;540;596;540	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	H	540;540;596;540;540;322	ENSP00000346680:R540H;ENSP00000376796:R540H;ENSP00000348429:R596H;ENSP00000403647:R540H;ENSP00000346223:R540H;ENSP00000358418:R322H	ENSP00000346223:R540H	R	+	2	0	ACSL5	114175111	1.000000	0.71417	0.964000	0.40570	0.869000	0.49853	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	CGT		TCGA-IB-A5ST-01A-11D-A32N-08	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	0	0	0	6	303	0	54	0	8.775035e-01	0	193	0	54	2		0	0	0	0	0	2	1	0.964308	6	300	0	54	2		0	0	0	0	54	2	-2.715055	1	1	121412	4	37	1	1	2	3	1.998000	0	0.100000	2.040000	0.106256	0.440000	0.170000	1.000000	0.380000	0.503113	0.440000	0	0.280000	0.730000
HTRA1	5654	broad.mit.edu	37	10	124273731	124273731	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:124273731C>A	ENST00000368984.3	+	9	1427	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1			17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)			AAAACGACGTCATAATCAGCA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000368984.3	0	1	hg19	CCDS7630.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	0	0	0	21	967	0	288	1	9.999993e-01	4	1116	0	288	2		0	0	0	0	0	2	1	0.999997	22	950	0	284	2		0	0	0	0	288	2	-2.645926	1	1	0	0		1	1	2	3	1.998000	0	0.100000	2.040000	0.106256	0.440000	0.270000	1.000000	0.420000	0.505828	0.440000	0	0.350000	0.600000
ITIH5	80760	broad.mit.edu	37	10	7679231	7679231	+	Silent	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:7679231C>T	ENST00000256861.6	-	5	690	c.612G>A	c.(610-612)ccG>ccA	p.P204P	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.P204P|ITIH5_ENST00000397146.2_Silent_p.P204P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5			75					TGTTGTGAAGCGGCAGCACCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000256861.6	1	1	hg19																																																																																					TCGA-IB-A5ST-01A-11D-A32N-08	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	0	0	0	24	713	0	158	0	2.197519e-01	0	26	0	158	2		0	0	0	0	0	2	1	1.000000	23	701	0	156	2		0	0	0	0	158	2	-3.193416	1	1	0	0		1	0	1	1	1.991996	0	0.100000	2.040000	0.093199	0.640000	0.420000	0.920000	0.650000	0.662074	0.640000	0	0.520000	0.790000
RRP12	23223	broad.mit.edu	37	10	99118343	99118343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:99118343G>A	ENST00000370992.4	-	33	3853	c.3742C>T	c.(3742-3744)Ccg>Tcg	p.P1248S	RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S|RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)			37		Colorectal(252;0.162)			TAGGGATCCGGCCGGCCTTTC	0.582000																								0							SO:0001583	missense			ENST00000370992.4	0	1	hg19	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	6.599	0.478849	0.12581	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.31510	1.49;1.49;1.5;1.49	5.74	4.83	0.62350	.	0.779601	0.12532	N	0.460711	T	0.31888	0.0811	M	0.62723	1.935	0.09310	N	1	B;B;P;B	0.35456	0.357;0.284;0.502;0.07	B;B;B;B	0.31751	0.039;0.054;0.135;0.039	T	0.12528	-1.0544	10	0.27082	T	0.32	-0.6992	13.8073	0.63240	0.0:0.0:0.7211:0.2789	.	1187;1148;966;1248	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	S	1248;1148;1187;966	ENSP00000360031:P1248S;ENSP00000324315:P1148S;ENSP00000414863:P1187S;ENSP00000446184:P966S	ENSP00000324315:P1148S	P	-	1	0	RRP12	99108333	0.535000	0.26370	0.048000	0.18961	0.005000	0.04900	3.810000	0.55613	1.409000	0.46915	-0.314000	0.08810	CCG		TCGA-IB-A5ST-01A-11D-A32N-08	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	0	0	0	7	1210	1	412	0	7.847696e-02	0	143	1	412	3		0	0	0	0	0	2	0	0.042085	8	1190	2	404	16		0	0	0	1	412	2	-2.311208	0	1	0	0		1	1	2	3	1.998000	0	0.100000	2.040000	0.106256	0.120000	0.050000	1.000000	0.110000	0.228219	0.120000	0	0.080000	0.210000
LAYN	143903	broad.mit.edu	37	11	111428363	111428363	+	Silent	SNP	A	A	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:111428363A>G	ENST00000375615.3	+	7	965	c.780A>G	c.(778-780)agA>agG	p.R260R	LAYN_ENST00000436913.2_Silent_p.R107R|LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000533265.1_Silent_p.R252R	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin			14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Hyaluronan(DB08818)	GGATCTGTAGAAAAAGGCAAG	0.443000													Ovarian(17;551 586 12136 22082 22900)											0							SO:0001819	synonymous_variant			ENST00000375615.3	1	1	hg19	CCDS58178.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	0	0	0	52	1674	0	518	0	3.472250e-01	0	40	0	518	2		0	0	0	0	0	2	1	1.000000	52	1631	0	510	2		0	0	0	0	518	2	-3.663127	1	1	0	0		1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.590000	0.440000	0.760000	0.600000	0.605718	0.590000	0	0.510000	0.680000
USP2	9099	broad.mit.edu	37	11	119243920	119243920	+	Missense_Mutation	SNP	G	G	A	rs146943763	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:119243920G>A	ENST00000260187.2	-	2	565	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2			24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)			CTCTCTGCCCGCTTACCACCC	0.652000																								0							SO:0001583	missense			ENST00000260187.2	0	1	hg19	CCDS8422.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	10.95	1.495124	0.26774	.	.	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843	T	0.24538	1.85	5.37	3.3	0.37823	.	2.634020	0.01228	N	0.008277	T	0.23572	0.0570	L	0.27053	0.805	0.39645	D	0.970387	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.56958	D	0.05	-5.9847	9.6628	0.39965	0.0813:0.0:0.7696:0.1491	.	91	O75604	UBP2_HUMAN	W	91;61;91;91	ENSP00000260187:R91W	ENSP00000260187:R91W	R	-	1	2	USP2	118749130	0.941000	0.31946	0.996000	0.52242	0.734000	0.41952	2.168000	0.42424	1.262000	0.44165	-0.254000	0.11334	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	0	0	0	6	729	1	207	0	0	0	1	1	207	2		0	0	0	0	0	2	0	0.051995	7	716	1	203	14		0	0	0	1	207	2	-2.355866	0	1	121406	5	41	1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.170000	0.060000	0.330000	0.160000	0.186150	0.170000	0	0.110000	0.250000
POU2F3	25833	broad.mit.edu	37	11	120175780	120175780	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:120175780C>A	ENST00000543440.2	+	7	636	c.486C>A	c.(484-486)ccC>ccA	p.P162P	POU2F3_ENST00000260264.4_Silent_p.P164P	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3			17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)			CTTTAGAACCCCACCTGGAAG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000543440.2	0	1	hg19	CCDS8431.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2	0	0	0	6	489	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	0.963601	6	482	0	103	2		0	0	0	0	103	2	-2.740875	1	1	0	0		1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.250000	0.100000	0.490000	0.240000	0.274261	0.250000	0	0.160000	0.370000
TECTA	7007	broad.mit.edu	37	11	121016448	121016448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:121016448G>A	ENST00000392793.1	+	12	3999	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H			O75443	TECTA_HUMAN	tectorin alpha	p.R1243H(1)	TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			CTGTGTGGCCGCTACAACGGC	0.532000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000392793.1	0	1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782117	0.70222	2.27E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59772	0.24;0.24	5.76	4.85	0.62838	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000005	T	0.55016	0.1894	L	0.36672	1.1	0.33742	D	0.619606	D	0.56287	0.975	P	0.50270	0.636	T	0.67632	-0.5621	10	0.59425	D	0.04	.	11.5134	0.50507	0.137:0.0:0.863:0.0	.	1243	O75443	TECTA_HUMAN	H	1243	ENSP00000376543:R1243H;ENSP00000264037:R1243H	ENSP00000264037:R1243H	R	+	2	0	TECTA	120521658	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.363000	0.44178	2.721000	0.93114	0.591000	0.81541	CGC		TCGA-IB-A5ST-01A-11D-A32N-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	0	0	0	9	390	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	0.994142	8	388	0	120	2		0	0	0	0	121	2	-2.885246	1	1	121412	7	41	1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.460000	0.220000	0.790000	0.440000	0.483080	0.460000	0	0.320000	0.620000
NUP98	4928	broad.mit.edu	37	11	3697456	3697456	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:3697456T>C	ENST00000324932.7	-	33	5756	c.5336A>G	c.(5335-5337)tAt>tGt	p.Y1779C	NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa			66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)			GTCCATGGCATAGTCCTCAGG	0.592000			T	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11	AML										Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0							SO:0001583	missense			ENST00000324932.7	1	1	hg19	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410072	0.62399	.	.	ENSG00000110713	ENST00000324932;ENST00000355260	.	.	.	5.65	5.65	0.86999	.	0.218936	0.33144	N	0.005228	T	0.75436	0.3849	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75374	-0.3340	9	0.44086	T	0.13	-11.2226	14.719	0.69291	0.0:0.0:0.0:1.0	.	1705;1779;1693	P52948-2;P52948-5;P52948-6	.;.;.	C	1779;1705	.	ENSP00000316032:Y1779C	Y	-	2	0	NUP98	3654032	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.619000	0.83057	2.161000	0.67846	0.454000	0.30748	TAT		TCGA-IB-A5ST-01A-11D-A32N-08	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	0	0	1	13	399	0	109	1	9.232123e-01	20	118	0	109	2		0	0	0	0	0	2	1	0.999520	13	395	0	108	2		0	0	0	0	109	2	-13.098230	1	1	121412	2	34	1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.630000	0.350000	1.000000	1.000000	0.652737	0.630000	0	0.480000	0.820000
CKAP5	9793	broad.mit.edu	37	11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	p.R1453C(1)		43					GGTCCCTTGCGTAACATGTTG	0.483000													Ovarian(4;85 273 2202 4844 13323)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000529230.1	1	1	hg19	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.036557|4.036557	0.75617|0.75617	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.51071|.	0.72;0.74;0.74;0.74|.	6.03|6.03	5.12|5.12	0.69794|0.69794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.89917|.	1.0;0.004;0.002|.	D;B;B|.	0.72625|.	0.978;0.001;0.0|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.59425|.	D|.	0.04|.	-10.0088|-10.0088	15.5956|15.5956	0.76578|0.76578	0.0658:0.0:0.9342:0.0|0.0658:0.0:0.9342:0.0	.|.	1453;1453;1453|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	C|M	1453;1453;1453;1453;176|1	ENSP00000432768:R1453C;ENSP00000395302:R1453C;ENSP00000310227:R1453C;ENSP00000346566:R1453C|.	ENSP00000310227:R1453C|.	R|T	-|-	1|2	0|0	CKAP5|CKAP5	46738775|46738775	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.997000|0.997000	0.91878|0.91878	5.506000|5.506000	0.66993|0.66993	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	CGC|ACG		TCGA-IB-A5ST-01A-11D-A32N-08	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	0	0	1	8	273	0	45	1	6.820832e-01	12	67	0	45	2		0	0	0	0	0	2	1	0.989021	8	269	0	45	2		0	0	0	0	45	2	-3.468434	1	1	121410	2	36	1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.580000	0.270000	1.000000	1.000000	0.605481	0.580000	0	0.400000	0.800000
OR5D13	390142	broad.mit.edu	37	11	55541693	55541693	+	Silent	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:55541693T>C	ENST00000361760.1	+	1	780	c.780T>C	c.(778-780)ctT>ctC	p.L260L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13			40		all_epithelial(135;0.196)			TCCTTTTCCTTTACTGTGTTC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000361760.1	0	1	hg19	CCDS31507.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	0	0	0	4	326	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	0.887377	4	321	0	40	2		0	0	0	0	41	2	-5.090844	1	1	0	0		1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.260000	0.080000	0.560000	0.240000	0.290344	0.260000	0	0.160000	0.410000
SLC25A22	79751	broad.mit.edu	37	11	792328	792328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:792328C>T	ENST00000320230.5	-	8	1199	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T|CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22			5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			ACGGCCACAGCGGCGGCACTC	0.682000													Colon(93;848 1468 3270 23355 49636)											0							SO:0001583	missense			ENST00000320230.5	1	1	hg19	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962796	0.53507	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.78595	-1.19;-1.19	3.8	2.88	0.33553	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	L	0.38953	1.18	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.76345	-0.2993	10	0.31617	T	0.26	-17.7338	11.5497	0.50713	0.0:0.9115:0.0:0.0885	.	240	Q9H936	GHC1_HUMAN	T	240	ENSP00000322020:A240T;ENSP00000437236:A240T	ENSP00000322020:A240T	A	-	1	0	SLC25A22	782328	1.000000	0.71417	0.020000	0.16555	0.002000	0.02628	5.614000	0.67695	0.959000	0.37980	-0.199000	0.12753	GCT		TCGA-IB-A5ST-01A-11D-A32N-08	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2	0	0	1	15	673	0	207	1	2.376748e-01	18	22	0	207	2		0	0	0	0	0	2	1	0.999861	17	664	0	206	2		0	0	0	0	207	2	-2.675842	1	1	121318	1	32	1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.430000	0.250000	0.680000	0.430000	0.454050	0.430000	0	0.330000	0.560000
TYR	7299	broad.mit.edu	37	11	88911586	88911586	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase			48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)		Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCATAGGGACCTATGGCCAAA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000263321.5	1	1	hg19	CCDS8284.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	0	0	0	24	629	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1.000000	24	626	0	103	2		0	0	0	0	105	2	-2.909917	1	1	121412	1	36	1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.730000	0.480000	1.000000	1.000000	0.742908	0.730000	0	0.590000	0.890000
MTNR1B	4544	broad.mit.edu	37	11	92715132	92715132	+	Missense_Mutation	SNP	G	G	A	rs150751119		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:92715132G>A	ENST00000257068.2	+	2	749	c.743G>A	c.(742-744)cGg>cAg	p.R248Q		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B			33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGCGACTTGCGGAGCTTTCTA	0.572000																								0							SO:0001583	missense			ENST00000257068.2	0	1	hg19	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069708	0.93950	0.0	1.16E-4	ENSG00000134640	ENST00000257068	T	0.40225	1.04	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.84683	2.71	0.80722	D	1	D	0.57257	0.979	P	0.51170	0.661	T	0.70923	-0.4740	10	0.72032	D	0.01	-22.6709	17.1314	0.86727	0.0:0.0:1.0:0.0	.	248	P49286	MTR1B_HUMAN	Q	248	ENSP00000257068:R248Q	ENSP00000257068:R248Q	R	+	2	0	MTNR1B	92354780	1.000000	0.71417	0.990000	0.47175	0.851000	0.48451	4.111000	0.57838	2.338000	0.79540	0.491000	0.48974	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1	0	0	0	7	377	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	0.980098	8	372	0	108	2		0	0	0	0	108	2	-2.029878	0	1	121412	2	40	1	0	1	1	1.992939	0	0.100000	2.040000	0.093656	0.370000	0.160000	0.690000	0.350000	0.401217	0.370000	0	0.250000	0.530000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	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	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	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-IB-A5ST-01A-11D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	4	93	0	18	1	3.527587e-01	8	17	0	18	2	1	9.908627e-01	5	232	0	211	2	1	0.889430	4	92	0	18	2	1	1	438	7599	0	18	2	-4.082842	1	1	121404	2	44	1	1	2	3	1.998090	0	0.100000	2.040000	0.106256	0.930000	0.310000	1.000000	1.000000	0.824213	0.930000	1	0.560000	1.000000
ADCY6	112	broad.mit.edu	37	12	49164612	49164612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:49164612G>A	ENST00000307885.4	-	19	3887	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6			29					TCCATGAGCCGCATGGCGTAG	0.552000																								0							SO:0001583	missense			ENST00000307885.4	0	1	hg19	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109958	0.77210	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.31510	1.49;1.49;1.49	4.88	4.88	0.63580	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.85041	2.73	0.49130	D	0.999752	D;D	0.89917	1.0;0.999	D;D	0.75020	0.963;0.985	T	0.63202	-0.6690	10	0.72032	D	0.01	.	12.7647	0.57385	0.0:0.0:0.8354:0.1646	.	1012;1065	O43306-2;O43306	.;ADCY6_HUMAN	W	1012;1012;1065	ENSP00000350536:R1012W;ENSP00000446730:R1012W;ENSP00000311405:R1065W	ENSP00000311405:R1065W	R	-	1	2	ADCY6	47450879	0.952000	0.32445	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.649000	0.89929	0.650000	0.86243	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	0	0	0	6	424	0	101	0	1.366642e-01	0	39	0	101	2		0	0	0	0	0	2	1	0.964200	6	420	0	99	2		0	0	0	0	101	2	-2.197220	0	1	121412	3	38	1	1	2	3	1.998090	0	0.100000	2.040000	0.106256	0.310000	0.120000	1.000000	0.280000	0.395864	0.310000	0	0.200000	0.530000
GTSF1	121355	broad.mit.edu	37	12	54858949	54858949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:54858949C>T	ENST00000552397.1	-	3	915	c.19G>A	c.(19-21)Gac>Aac	p.D7N	RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000552395.1_Intron			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1			5		Myeloproliferative disorder(1001;0.00452)			TCCAGGGAGTCGGCTGAAAGA	0.428000																								0							SO:0001583	missense			ENST00000552397.1	0	1	hg19	CCDS8881.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672837	0.88445	2.27E-4	0.0	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.54071	0.59;0.59	5.57	5.57	0.84162	.	0.152500	0.56097	D	0.000021	T	0.59878	0.2226	M	0.68952	2.095	0.47621	D	0.999471	D	0.63046	0.992	P	0.48454	0.578	T	0.59451	-0.7452	10	0.37606	T	0.19	-22.3962	17.4106	0.87484	0.0:1.0:0.0:0.0	.	7	Q8WW33	GTSF1_HUMAN	N	7	ENSP00000446485:D7N;ENSP00000304185:D7N	ENSP00000304185:D7N	D	-	1	0	GTSF1	53145216	0.979000	0.34478	0.999000	0.59377	0.916000	0.54674	2.429000	0.44758	2.785000	0.95823	0.655000	0.94253	GAC		TCGA-IB-A5ST-01A-11D-A32N-08	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	0	0	0	8	274	0	45	0	3.250271e-03	0	3	0	45	2		0	0	0	0	0	2	1	0.988355	8	266	0	45	2		0	0	0	0	45	2	-3.269909	1	1	121412	17	43	1	1	2	3	1.998090	0	0.100000	2.040000	0.106256	0.620000	0.280000	1.000000	1.000000	0.657141	0.620000	0	0.420000	0.970000
C12orf74	338809	broad.mit.edu	37	12	93100538	93100538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:93100538G>A	ENST00000397833.3	+	2	582	c.131G>A	c.(130-132)cGc>cAc	p.R44H	C12orf74_ENST00000544406.2_Missense_Mutation_p.R44H	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74			10					GCCCCAGGCCGCATCTCCACC	0.642000																								0							SO:0001583	missense			ENST00000397833.3	0	1	hg19	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903105	0.33628	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	4.08	0.47627	.	.	.	.	.	T	0.24084	0.0583	N	0.24115	0.695	0.18873	N	0.999983	P;P	0.43938	0.822;0.822	B;B	0.37943	0.261;0.261	T	0.06991	-1.0796	8	0.59425	D	0.04	-16.0586	9.522	0.39140	0.0971:0.0:0.9029:0.0	.	44;44	F5H4P0;Q32Q52	.;CL074_HUMAN	H	44	.	ENSP00000380933:R44H	R	+	2	0	C12orf74	91624669	0.014000	0.17966	0.083000	0.20561	0.338000	0.28826	1.061000	0.30542	1.295000	0.44724	0.462000	0.41574	CGC		TCGA-IB-A5ST-01A-11D-A32N-08	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	0	0	0	5	391	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	0.935813	5	386	0	84	2		0	0	0	0	85	2	-2.799622	1	1	120848	7	38	1	1	2	3	1.998090	0	0.100000	2.040000	0.106256	0.290000	0.100000	1.000000	0.250000	0.375619	0.290000	0	0.180000	0.510000
FAM155A	728215	broad.mit.edu	37	13	108518385	108518385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:108518385G>A	ENST00000375915.2	-	1	698	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A			33					CACCGCGTCCGCATTCTCCAC	0.652000																								0							SO:0001583	missense			ENST00000375915.2	0	1	hg19	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734242	0.48939	.	.	ENSG00000204442	ENST00000375915	T	0.11169	2.8	5.89	5.04	0.67666	.	0.189112	0.43919	D	0.000518	T	0.16981	0.0408	L	0.29908	0.895	0.44085	D	0.996848	D	0.71674	0.998	P	0.54346	0.749	T	0.01146	-1.1437	10	0.62326	D	0.03	.	15.5308	0.75960	0.0:0.0:0.8609:0.1391	.	187	B1AL88	F155A_HUMAN	V	187	ENSP00000365080:A187V	ENSP00000365080:A187V	A	-	2	0	FAM155A	107316386	1.000000	0.71417	0.980000	0.43619	0.004000	0.04260	9.147000	0.94646	1.479000	0.48272	-0.314000	0.08810	GCG		TCGA-IB-A5ST-01A-11D-A32N-08	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	0	0	0	7	673	1	136	0	5.198303e-03	0	9	1	136	2		0	0	0	0	0	2	0	0.028339	8	662	1	134	17		0	0	0	1	136	2	-1.951316	0	1	0	0		1	1	2	3	2.019891	0	0.100000	2.040000	0.111111	0.240000	0.090000	1.000000	0.200000	0.372013	0.240000	0	0.150000	1.000000
DCLK1	9201	broad.mit.edu	37	13	36445384	36445384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:36445384T>G	ENST00000360631.3	-	5	1128	c.917A>C	c.(916-918)aAg>aCg	p.K306T	DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T|DCLK1_ENST00000255448.4_Missense_Mutation_p.K306T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1			64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		GGCAGGGGACTTGCTACGCCT	0.532000																								0							SO:0001583	missense			ENST00000360631.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	21.3	4.125614	0.77436	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.68765	-0.35;-0.35;1.65	5.28	5.28	0.74379	.	0.112949	0.64402	D	0.000015	T	0.80894	0.4711	M	0.75777	2.31	0.53688	D	0.999973	D	0.76494	0.999	D	0.72982	0.979	T	0.82244	-0.0553	10	0.51188	T	0.08	.	15.5029	0.75713	0.0:0.0:0.0:1.0	.	306	O15075-2	.	T	306	ENSP00000255448:K306T;ENSP00000353846:K306T;ENSP00000369222:K306T	ENSP00000255448:K306T	K	-	2	0	DCLK1	35343384	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.611000	0.67674	2.115000	0.64714	0.533000	0.62120	AAG		TCGA-IB-A5ST-01A-11D-A32N-08	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	0	0	0	6	558	0	127	0	1.395883e-02	0	14	0	127	2		0	0	0	0	0	2	1	0.963149	6	548	0	124	2		0	0	0	0	127	2	-5.302436	1	1	0	0		1	1	2	3	2.019891	0	0.100000	2.040000	0.111111	0.250000	0.090000	1.000000	0.220000	0.381983	0.250000	0	0.160000	1.000000
CSPG4	1464	broad.mit.edu	37	15	75968972	75968972	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:75968972T>A	ENST00000308508.5	-	10	5980	c.5888A>T	c.(5887-5889)cAg>cTg	p.Q1963L	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					GAGCTGCTGCTGGCTCAGTGA	0.672000																								0							SO:0001583	missense			ENST00000308508.5	1	1	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399616	0.25291	.	.	ENSG00000173546	ENST00000308508	T	0.18016	2.24	5.15	-6.2	0.02072	.	0.815436	0.10720	N	0.641890	T	0.09949	0.0244	L	0.34521	1.04	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.33214	-0.9877	10	0.25751	T	0.34	.	8.6049	0.33767	0.0:0.2126:0.3399:0.4475	.	1963	Q6UVK1	CSPG4_HUMAN	L	1963	ENSP00000312506:Q1963L	ENSP00000312506:Q1963L	Q	-	2	0	CSPG4	73756027	0.037000	0.19845	0.433000	0.26760	0.950000	0.60333	0.260000	0.18424	-1.050000	0.03230	-0.337000	0.08149	CAG		TCGA-IB-A5ST-01A-11D-A32N-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	0	18	495	0	143	0	2.630517e-01	0	27	0	143	2		0	0	0	0	0	2	1	0.999982	18	493	0	141	2		0	0	0	0	143	2	-16.792810	1	1	0	0		1	0	0	0	1.966184	0	0.100000	2.040000	0.080695	0.680000	0.420000	1.000000	1.000000	0.702847	0.680000	0	0.540000	0.860000
ANKS4B	257629	broad.mit.edu	37	16	21261762	21261762	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:21261762G>C	ENST00000311620.5	+	2	948	c.875G>C	c.(874-876)aGa>aCa	p.R292T		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B			20					GATAGCAAGAGAGAGTTTGGT	0.458000																								0							SO:0001583	missense			ENST00000311620.5	0	1	hg19	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	4.587	0.108980	0.08780	.	.	ENSG00000175311	ENST00000311620	T	0.44881	0.91	5.77	4.8	0.61643	.	0.168743	0.53938	N	0.000044	T	0.44932	0.1317	M	0.70595	2.14	0.41181	D	0.986238	B	0.02656	0.0	B	0.04013	0.001	T	0.44236	-0.9341	10	0.59425	D	0.04	-10.1277	14.5212	0.67851	0.0:0.1479:0.8521:0.0	.	292	Q8N8V4	ANS4B_HUMAN	T	292	ENSP00000308772:R292T	ENSP00000308772:R292T	R	+	2	0	ANKS4B	21169263	0.614000	0.27017	0.963000	0.40424	0.060000	0.15804	1.431000	0.34925	1.416000	0.47057	-0.282000	0.10007	AGA		TCGA-IB-A5ST-01A-11D-A32N-08	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	0	0	1	4	154	0	39	1	2.535692e-01	14	17	0	39	2		0	0	0	0	0	2	1	0.886830	4	151	0	39	2		0	0	0	0	39	2	-6.573118	1	1	0	0		1	1	2	3	2.032587	0	0.100000	2.040000	0.113737	0.650000	0.200000	1.000000	1.000000	0.673959	0.650000	0	0.370000	1.000000
ITGAD	3681	broad.mit.edu	37	16	31434506	31434506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:31434506G>A	ENST00000389202.2	+	24	2901	c.2852G>A	c.(2851-2853)cGa>cAa	p.R951Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	p.R951Q(1)		71					GCTGAGCATCGATACCGTGTG	0.498000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000389202.2	0	1	hg19	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331575	0.24167	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.44482	0.92	5.59	1.43	0.22495	Integrin alpha-2 (1);	.	.	.	.	T	0.20251	0.0487	L	0.28400	0.85	0.09310	N	1	P;P	0.47034	0.889;0.889	B;B	0.28638	0.092;0.092	T	0.09443	-1.0674	9	0.20046	T	0.44	.	7.3842	0.26872	0.3411:0.0:0.6589:0.0	.	967;951	Q59H14;Q13349	.;ITAD_HUMAN	Q	967;951	ENSP00000373854:R951Q	ENSP00000373854:R951Q	R	+	2	0	ITGAD	31342007	0.000000	0.05858	0.003000	0.11579	0.453000	0.32348	-0.053000	0.11846	0.704000	0.31869	0.650000	0.86243	CGA		TCGA-IB-A5ST-01A-11D-A32N-08	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	0	0	0	5	215	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	0.935984	5	212	0	47	2		0	0	0	0	47	2	-3.406568	1	1	121412	6	36	1	1	2	3	2.032587	0	0.100000	2.040000	0.113737	0.560000	0.200000	1.000000	1.000000	0.623630	0.560000	0	0.340000	1.000000
LPCAT2	54947	broad.mit.edu	37	16	55579653	55579653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:55579653C>T	ENST00000262134.5	+	9	1043	c.859C>T	c.(859-861)Cca>Tca	p.P287S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2			12					TCAGTTTATGCCAGTTCAAGT	0.289000																								0							SO:0001583	missense			ENST00000262134.5	0	1	hg19	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935213	0.92458	.	.	ENSG00000087253	ENST00000262134	D	0.93906	-3.31	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	M	0.93898	3.47	0.80722	D	1	D	0.65815	0.995	P	0.55965	0.788	D	0.97520	1.0072	10	0.87932	D	0	-16.5825	20.1358	0.98028	0.0:1.0:0.0:0.0	.	287	Q7L5N7	PCAT2_HUMAN	S	287	ENSP00000262134:P287S	ENSP00000262134:P287S	P	+	1	0	LPCAT2	54137154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.876000	0.63079	2.865000	0.98341	0.655000	0.94253	CCA		TCGA-IB-A5ST-01A-11D-A32N-08	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	0	0	0	5	363	0	43	0	2.033785e-01	0	51	0	43	2		0	0	0	0	0	2	1	0.936602	5	360	0	43	2		0	0	0	0	43	2	-1.896728	0	1	121402	1	27	1	1	2	3	2.032587	0	0.100000	2.040000	0.113737	0.340000	0.120000	1.000000	0.260000	0.462001	0.340000	0	0.200000	1.000000
MAP2K3	5606	broad.mit.edu	37	17	21204188	21204188	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204188G>A	ENST00000342679.4	+	5	531	c.282G>A	c.(280-282)cgG>cgA	p.R94R	MAP2K3_ENST00000361818.5_Silent_p.R65R|MAP2K3_ENST00000316920.6_Silent_p.R65R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3								CCCTGCAGCGGATCCGGGCCA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000342679.4	0	1	hg19	CCDS11217.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	0	0	0	6	391	0	101	1	6.428438e-01	9	126	0	101	2		0	0	0	0	0	2	1	0.962993	6	383	0	101	2		0	0	0	0	101	2	-6.267752	1	0	0	0		1	0	1	1	1.979359	0	0.100000	2.040000	0.090450	0.310000	0.130000	0.600000	0.290000	0.338410	0.310000	0	0.200000	0.460000
MAP2K3	5606	broad.mit.edu	37	17	21204218	21204218	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204218G>A	ENST00000342679.4	+	5	561	c.312G>A	c.(310-312)caG>caA	p.Q104Q	MAP2K3_ENST00000361818.5_Silent_p.Q75Q|MAP2K3_ENST00000316920.6_Silent_p.Q75Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3								CACAGGAGCAGAAGCGGCTGC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000342679.4	0	1	hg19	CCDS11217.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	0	0	0	6	487	0	133	1	4.841150e-01	10	110	0	133	2		0	0	0	0	0	2	1	0.962893	6	477	0	133	2		0	0	0	0	133	2	-5.437685	1	0	0	0		1	0	1	1	1.979359	0	0.100000	2.040000	0.090450	0.250000	0.100000	0.490000	0.240000	0.274158	0.250000	0	0.160000	0.370000
MYBBP1A	10514	broad.mit.edu	37	17	4453441	4453441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4453441G>A	ENST00000254718.4	-	9	1537	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a			24					AACATGGCCCGCAGCCAGGCC	0.597000																								0							SO:0001583	missense			ENST00000254718.4	0	1	hg19	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462466	0.43736	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.52057	0.68;0.68	5.06	5.06	0.68205	Armadillo-type fold (1);	0.730054	0.13638	N	0.373192	T	0.52549	0.1741	L	0.51422	1.61	0.25166	N	0.990316	D;D	0.60160	0.987;0.984	P;P	0.52909	0.713;0.59	T	0.44559	-0.9320	10	0.41790	T	0.15	-17.3908	10.9319	0.47222	0.0:0.0:0.8133:0.1867	.	411;411	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	W	411	ENSP00000370968:R411W;ENSP00000254718:R411W	ENSP00000254718:R411W	R	-	1	2	MYBBP1A	4400190	0.867000	0.29959	0.946000	0.38457	0.017000	0.09413	4.116000	0.57871	2.642000	0.89623	0.655000	0.94253	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	0	0	0	6	335	0	101	0	2.070832e-01	0	41	0	101	2		0	0	0	0	0	2	1	0.965007	6	334	0	101	2		0	0	0	0	101	2	-2.433878	0	1	121412	1	29	1	0	1	1	1.979359	0	0.100000	2.040000	0.090450	0.360000	0.150000	0.690000	0.340000	0.391933	0.360000	0	0.240000	0.530000
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	GRCh37	CM010465|CM900211	TP53	M	rs121912651	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	0	11	315	0	100	1	8.015003e-01	22	66	0	100	2	1	9.999550e-01	13	552	0	793	2	1	0.998262	11	310	0	100	2		0	0	0	0	100	2	-2.641153	1	1	121412	1	37	1	0	1	1	1.979359	0	0.100000	2.040000	0.090450	0.670000	0.360000	1.000000	1.000000	0.692844	0.670000	0	0.500000	0.890000
FFAR3	2865	broad.mit.edu	37	19	35850345	35850345	+	Missense_Mutation	SNP	C	C	T	rs150489647		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:35850345C>T	ENST00000327809.4	+	2	754	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3			17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		CCTGCCCGTGCGGCTGGAGAT	0.622000													Esophageal Squamous(185;1742 2042 21963 24215 27871)											0							SO:0001583	missense			ENST00000327809.4	0	1	hg19	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255435	0.39896	.	.	ENSG00000185897	ENST00000327809	T	0.37752	1.18	5.13	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.59932	0.2230	M	0.82517	2.595	0.38954	D	0.958414	D	0.89917	1.0	D	0.97110	1.0	T	0.65516	-0.6149	10	0.38643	T	0.18	-24.346	13.0743	0.59079	0.316:0.684:0.0:0.0	.	185	O14843	FFAR3_HUMAN	W	185	ENSP00000328230:R185W	ENSP00000328230:R185W	R	+	1	2	FFAR3	40542185	0.985000	0.35326	0.625000	0.29200	0.069000	0.16628	3.235000	0.51328	1.110000	0.41699	0.455000	0.32223	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	0	0	0	6	363	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	0.947341	6	315	0	100	2		0	0	0	0	89	2	-2.998623	1	1	121404	1	31	1	1	2	3	2.030591	0	0.100000	2.040000	0.113300	0.390000	0.150000	1.000000	0.320000	0.501218	0.390000	0	0.240000	1.000000
CEACAM7	1087	broad.mit.edu	37	19	42190935	42190935	+	Silent	SNP	G	G	A	rs145571605	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:42190935G>A	ENST00000006724.3	-	2	483	c.282C>T	c.(280-282)ccC>ccT	p.P94P	CEACAM7_ENST00000401731.1_Silent_p.P94P|CEACAM7_ENST00000338196.4_Silent_p.P94P|CEACAM7_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7			18					CGTTGTGTGCGGGCCCTGGGG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000006724.3	0	1	hg19	CCDS12583.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	0	0	0	7	964	0	220	0	4.399394e-02	0	39	0	220	2		0	0	0	0	0	2	1	0.979803	8	952	0	218	2		0	0	0	0	220	2	-1.658660	0	1	121412	13	48	1	1	2	3	2.090229	0	0.100000	2.040000	0.126214	0.180000	0.060000	1.000000	0.150000	0.361485	0.180000	0	0.110000	1.000000
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6			44		Prostate(69;0.00899)			GTTAGAGTCCGCAAAGCAGGA	0.448000																								0							SO:0001583	missense			ENST00000292125.2	0	1	hg19	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		TCGA-IB-A5ST-01A-11D-A32N-08	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	0	0	0	8	1175	0	273		0	0	0	0	273	2		0	0	0	0	0	2	1	0.988544	8	1154	0	269	2		0	0	0	0	273	2	-1.714379	0	1	121350	3	44	1	1	2	3	2.090229	0	0.100000	2.040000	0.126214	0.160000	0.060000	1.000000	0.130000	0.351793	0.160000	0	0.100000	1.000000
SASS6	163786	broad.mit.edu	37	1	100573235	100573235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:100573235T>G	ENST00000287482.5	-	10	1235	c.1095A>C	c.(1093-1095)caA>caC	p.Q365H	SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)			19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)			GCTTTCCTAGTTGTACTTGAT	0.249000																								0							SO:0001583	missense			ENST00000287482.5	0	1	hg19	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250271	0.39797	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.78595	-1.19;-1.19	5.86	-2.04	0.07343	.	0.097898	0.64402	D	0.000001	T	0.51363	0.1670	L	0.49350	1.555	0.39686	D	0.970979	B	0.25272	0.122	B	0.26094	0.066	T	0.37267	-0.9713	10	0.34782	T	0.22	-17.8258	8.944	0.35747	0.1162:0.4925:0.0:0.3913	.	365	Q6UVJ0	SAS6_HUMAN	H	365;338;198	ENSP00000287482:Q365H;ENSP00000440169:Q198H	ENSP00000287482:Q365H	Q	-	3	2	SASS6	100345823	0.975000	0.34042	0.975000	0.42487	0.990000	0.78478	0.142000	0.16096	-0.327000	0.08551	0.477000	0.44152	CAA		TCGA-IB-A5ST-01A-11D-A32N-08	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	1	0	0	5	128	0	13	0	2.287582e-03	0	2	0	13	2		0	0	0	0	0	2	1	0.937519	6	126	0	12	2		0	0	0	0	13	2	-3.684047	1	1	0	0		1	1	2	3	2.024724	0	0.100000	2.040000	0.111988	0.900000	0.330000	1.000000	1.000000	0.815059	0.900000	1	0.550000	1.000000
DBT	1629	broad.mit.edu	37	1	100681577	100681577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:100681577G>A	ENST00000370132.4	-	6	747	c.734C>T	c.(733-735)cCg>cTg	p.P245L	DBT_ENST00000370131.3_Missense_Mutation_p.P245L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2			19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)			TGTGAATACCGGAGGTTTTGA	0.388000																								0							SO:0001583	missense			ENST00000370132.4	0	1	hg19	CCDS767.1	.	.	.	.	.	.	.	.	.	.	g	3.697	-0.062301	0.07317	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.34275	1.37;1.37	5.66	0.124	0.14714	Chloramphenicol acetyltransferase-like domain (1);	0.712173	0.14328	N	0.326549	T	0.05227	0.0139	N	0.14661	0.345	0.19945	N	0.999947	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.40534	-0.9558	10	0.16420	T	0.52	1.0E-4	4.1964	0.10445	0.5271:0.0:0.3072:0.1657	.	64;245	F5H1F9;P11182	.;ODB2_HUMAN	L	64;245;245	ENSP00000359151:P245L;ENSP00000359150:P245L	ENSP00000359150:P245L	P	-	2	0	DBT	100454165	0.017000	0.18338	0.003000	0.11579	0.011000	0.07611	0.567000	0.23608	0.358000	0.24211	-0.150000	0.13652	CCG		TCGA-IB-A5ST-01A-11D-A32N-08	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	0	0	0	5	643	0	110	0	2.661515e-02	0	26	0	110	2		0	0	0	0	0	2	1	0.934637	5	631	0	110	2		0	0	0	0	110	2	-2.005325	0	1	121412	4	40	1	1	2	3	2.024724	0	0.100000	2.040000	0.111988	0.190000	0.060000	1.000000	0.160000	0.338948	0.190000	0	0.110000	1.000000
CSF1	1435	broad.mit.edu	37	1	110458293	110458293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110458293T>C	ENST00000329608.6	+	3	591	c.200T>C	c.(199-201)tTt>tCt	p.F67S	CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)			20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)			CAAATTACATTTGAGTTTGTA	0.502000																								0							SO:0001583	missense			ENST00000329608.6	1	1	hg19	CCDS816.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589665	0.28357	2.27E-4	0.0	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.46	3.04	0.35103	Four-helical cytokine-like, core (1);	0.227455	0.37304	N	0.002156	T	0.15955	0.0384	M	0.66939	2.045	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.992	D;P;P	0.64042	0.921;0.886;0.634	T	0.05321	-1.0892	10	0.87932	D	0	.	8.5803	0.33623	0.2814:0.0:0.0:0.7186	.	67;67;67	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	S	74;26;67;67;67;26;67;67;67	ENSP00000434527:F74S;ENSP00000431547:F26S;ENSP00000349854:F67S;ENSP00000342718:F67S;ENSP00000327513:F67S;ENSP00000433837:F26S;ENSP00000358817:F67S;ENSP00000407317:F67S;ENSP00000358816:F67S	ENSP00000327513:F67S	F	+	2	0	CSF1	110259816	1.000000	0.71417	0.068000	0.19968	0.003000	0.03518	1.209000	0.32357	0.400000	0.25396	0.459000	0.35465	TTT		TCGA-IB-A5ST-01A-11D-A32N-08	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	0	0	0	12	416	0	125	0	5.038684e-01	1	56	0	125	2		0	0	0	0	0	2	1	0.999065	12	410	0	124	2		0	0	0	0	125	2	-11.550550	1	1	121412	1	29	1	1	2	3	2.013362	0	0.100000	2.040000	0.109352	0.610000	0.320000	1.000000	0.560000	0.661407	0.610000	0	0.440000	1.000000
NUP210L	91181	broad.mit.edu	37	1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like			80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		GATTTAGCTGCGATATGTGTA	0.443000																								0							SO:0001583	missense			ENST00000368559.3	1	1	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158628	0.09236	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06218	3.6;3.33	5.15	2.21	0.28008	.	0.453697	0.20603	N	0.089102	T	0.01156	0.0038	L	0.28274	0.84	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.08055	0.003;0.002	T	0.47873	-0.9083	10	0.10902	T	0.67	-12.1311	8.7224	0.34449	0.0:0.7554:0.0:0.2446	.	622;622	E7EP56;Q5VU65	.;P210L_HUMAN	T	622	ENSP00000357547:A622T;ENSP00000271854:A622T	ENSP00000271854:A622T	A	-	1	0	NUP210L	152339199	0.001000	0.12720	0.255000	0.24374	0.110000	0.19582	0.689000	0.25437	0.547000	0.28938	0.462000	0.41574	GCA		TCGA-IB-A5ST-01A-11D-A32N-08	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	0	0	0	21	551	0	131		0	0	0	0	131	2	1	9.998789e-01	15	364	0	380	2	1	0.999997	21	543	0	130	2		0	0	0	0	131	2	-3.455460	1	1	120854	13	43	1	1	2	3	2.062082	0	0.100000	2.040000	0.120235	0.820000	0.490000	1.000000	1.000000	0.822380	0.820000	0	0.630000	1.000000
PIGR	5284	broad.mit.edu	37	1	207105858	207105858	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:207105858G>A	ENST00000356495.4	-	8	2134	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor			45					CCCACTGCCAGCACCAGGCCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000356495.4	0	1	hg19	CCDS1474.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	0	0	0	5	401	0	108	0	3.938701e-01	0	95	0	108	2		0	0	0	0	0	2	1	0.934588	5	393	0	105	2		0	0	0	0	108	2	-4.879670	1	1	0	0		1	1	2	3	2.068204	0	0.100000	2.040000	0.121523	0.320000	0.110000	1.000000	0.250000	0.466625	0.320000	0	0.190000	1.000000
SNAP47	116841	broad.mit.edu	37	1	227947156	227947156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:227947156G>A	ENST00000366759.4	+	3	1507	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T|SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	p.A365T(1)		17					CTCTTCCCCCGCAGAGAAGAG	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000366759.4	0	1	hg19	CCDS1562.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	5.504|5.504	0.277926|0.277926	0.10403|0.10403	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143740|ENSG00000143740	ENST00000366760;ENST00000366759;ENST00000315781|ENST00000418653;ENST00000426344	T;T;T|.	0.45668|.	0.89;2.2;2.18|.	5.04|5.04	1.08|1.08	0.20341|0.20341	.|.	0.734758|.	0.13883|.	N|.	0.356219|.	T|T	0.45438|0.45438	0.1342|0.1342	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.33379|.	0.001;0.196;0.41;0.41;0.196|.	B;B;B;B;B|.	0.25140|.	0.005;0.008;0.058;0.049;0.011|.	T|T	0.35724|0.35724	-0.9777|-0.9777	10|5	0.14656|.	T|.	0.56|.	-15.4879|-15.4879	7.4981|7.4981	0.27500|0.27500	0.445:0.0:0.555:0.0|0.445:0.0:0.555:0.0	.|.	123;365;177;365;123|.	Q5SQN1-3;Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4|.	.;SNP47_HUMAN;.;.;.|.	T|H	123;365;365|177;356	ENSP00000355722:A123T;ENSP00000355721:A365T;ENSP00000314157:A365T|.	ENSP00000314157:A365T|.	A|R	+|+	1|2	0|0	SNAP47|SNAP47	226013779|226013779	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	0.327000|0.327000	0.19663|0.19663	0.045000|0.045000	0.15804|0.15804	0.561000|0.561000	0.74099|0.74099	GCA|CGC		TCGA-IB-A5ST-01A-11D-A32N-08	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	0	0	0	6	750	0	209	0	2.213118e-01	0	95	0	209	2		0	0	0	0	0	2	0	0.054446	6	745	1	208	14		0	0	0	0	209	2	-2.244694	0	1	121412	9	45	1	1	2	3	2.068204	0	0.100000	2.040000	0.121523	0.200000	0.070000	1.000000	0.160000	0.384385	0.200000	0	0.120000	1.000000
CAPN9	10753	broad.mit.edu	37	1	230928629	230928629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:230928629G>A	ENST00000271971.2	+	17	1938	c.1825G>A	c.(1825-1827)Ggc>Agc	p.G609S	CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.G583S|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9			25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)			TGACAAGTCCGGCACCATGTC	0.512000																								0							SO:0001583	missense			ENST00000271971.2	1	1	hg19	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649288	0.87958	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.85339	-1.97;-1.97;-1.97	5.49	4.57	0.56435	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95185	0.8303	10	0.66056	D	0.02	.	13.7944	0.63162	0.0746:0.0:0.9254:0.0	.	546;583;609	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	S	609;583;546	ENSP00000271971:G609S;ENSP00000346538:G583S;ENSP00000355626:G546S	ENSP00000271971:G609S	G	+	1	0	CAPN9	228995252	1.000000	0.71417	0.868000	0.34077	0.964000	0.63967	7.352000	0.79404	1.314000	0.45095	0.655000	0.94253	GGC		TCGA-IB-A5ST-01A-11D-A32N-08	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	0	0	0	28	729	0	170	0	3.586647e-02	0	8	0	170	2		0	0	0	0	0	2	1	1.000000	29	715	0	168	2		0	0	0	0	170	2	-2.698337	1	1	121412	1	35	1	1	2	3	2.068204	0	0.100000	2.040000	0.121523	0.820000	0.530000	1.000000	1.000000	0.826204	0.820000	0	0.650000	1.000000
OR2M5	127059	broad.mit.edu	37	1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	rs147580819		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5			49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)		GGAGAGGGTCGTCGCAAAGCT	0.463000																								0							SO:0001583	missense			ENST00000366476.1	1	1	hg19	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	9.703	1.154991	0.21371	2.27E-4	0.0	ENSG00000162727	ENST00000366476	T	0.00333	8.07	3.28	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	1.008340	0.08001	N	0.988776	T	0.00412	0.0013	M	0.83483	2.645	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.42189	-0.9466	10	0.72032	D	0.01	.	8.818	0.35007	0.1975:0.0:0.8025:0.0	.	234	A3KFT3	OR2M5_HUMAN	H	234	ENSP00000355432:R234H	ENSP00000355432:R234H	R	+	2	0	OR2M5	246375773	0.000000	0.05858	0.000000	0.03702	0.702000	0.40608	0.556000	0.23438	0.062000	0.16340	-0.326000	0.08463	CGT		TCGA-IB-A5ST-01A-11D-A32N-08	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	0	0	0	27	1002	1	166		0	0	0	1	166	2		0	0	0	0	0	2	1	0.841795	28	996	1	165	21		0	0	0	1	166	2	-2.540902	1	1	121412	8	45	1	1	2	3	2.068204	0	0.100000	2.040000	0.121523	0.580000	0.370000	1.000000	0.530000	0.661018	0.580000	0	0.460000	1.000000
PHACTR4	65979	broad.mit.edu	37	1	28792265	28792265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:28792265C>T	ENST00000373839.3	+	5	602	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4			32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)			ATAGGGAATGCCAGATCATCT	0.463000																								0							SO:0001583	missense			ENST00000373839.3	0	1	hg19	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	4.838	0.155841	0.09236	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.34275	1.37;1.37	5.03	4.1	0.47936	.	1.184050	0.06004	N	0.648230	T	0.29423	0.0733	L	0.27053	0.805	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.09377	0.004;0.002;0.003	T	0.19582	-1.0301	10	0.30854	T	0.27	0.1306	10.8568	0.46804	0.0:0.9105:0.0:0.0895	.	124;114;98	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	V	114;124;113	ENSP00000362945:A114V;ENSP00000362942:A124V	ENSP00000362942:A124V	A	+	2	0	PHACTR4	28664852	0.004000	0.15560	0.013000	0.15412	0.029000	0.11900	1.972000	0.40540	1.315000	0.45114	0.655000	0.94253	GCC		TCGA-IB-A5ST-01A-11D-A32N-08	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	0	0	0	5	423	0	92	0	9.135986e-02	0	35	0	92	2		0	0	0	0	0	2	1	0.936727	5	420	0	90	2		0	0	0	0	92	2	-2.522450	1	1	0	0		1	1	2	3	2.024928	0	0.100000	2.040000	0.111988	0.290000	0.100000	1.000000	0.230000	0.414192	0.290000	0	0.170000	1.000000
ABCA4	24	broad.mit.edu	37	1	94543309	94543309	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:94543309G>A	ENST00000370225.3	-	11	1577	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	ABCA4_ENST00000535735.1_Silent_p.F497F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4			147		all_lung(203;0.000757)|Lung NSC(277;0.00335)			CCCTCCAGTCGAAGTTGGCCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000370225.3	1	1	hg19	CCDS747.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	0	0	0	18	637	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	0.999981	17	633	0	176	2		0	0	0	0	177	2	-2.825295	1	1	0	0		1	1	2	3	2.024724	0	0.100000	2.040000	0.111988	0.600000	0.350000	1.000000	0.560000	0.658548	0.600000	0	0.460000	1.000000
SLC32A1	140679	broad.mit.edu	37	20	37356192	37356192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr20:37356192G>A	ENST00000217420.1	+	2	751	c.488G>A	c.(487-489)gGc>gAc	p.G163D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1			38		Myeloproliferative disorder(115;0.00878)		Glycine(DB00145)	TGCTACACCGGCAAGATCCTC	0.637000																								0							SO:0001583	missense			ENST00000217420.1	0	1	hg19	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208888	0.79240	.	.	ENSG00000101438	ENST00000217420	T	0.02345	4.33	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	M	0.81112	2.525	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.00406	-1.1759	10	0.51188	T	0.08	-22.1911	14.5807	0.68288	0.0:0.0:1.0:0.0	.	163	Q9H598	VIAAT_HUMAN	D	163	ENSP00000217420:G163D	ENSP00000217420:G163D	G	+	2	0	SLC32A1	36789606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.631000	0.98424	2.317000	0.78254	0.563000	0.77884	GGC		TCGA-IB-A5ST-01A-11D-A32N-08	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	0	0	0	5	405	1	108		0	0	0	1	108	2		0	0	0	0	0	2	0	0.025384	5	392	1	107	14		0	0	0	1	108	2	-2.798540	1	1	0	0		1	1	2	3	2.034055	0	0.100000	2.040000	0.114173	0.310000	0.100000	1.000000	0.240000	0.439205	0.310000	0	0.180000	1.000000
STK11IP	114790	broad.mit.edu	37	2	220479983	220479983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:220479983C>T	ENST00000456909.1	+	24	3127	c.3037C>T	c.(3037-3039)Cag>Tag	p.Q1013*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.Q1024*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein			23		Renal(207;0.0183)			TGTCAGGGAGCAGCAGCCACT	0.647000																								0							SO:0001587	stop_gained			ENST00000456909.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.41	3.116420	0.56505	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	.	.	.	4.53	4.53	0.55603	.	0.160319	0.38959	N	0.001506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-14.4814	12.6615	0.56815	0.0:1.0:0.0:0.0	.	.	.	.	X	1013;1024	.	ENSP00000295641:Q1024X	Q	+	1	0	STK11IP	220188227	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	1.799000	0.38824	2.363000	0.80096	0.561000	0.74099	CAG		TCGA-IB-A5ST-01A-11D-A32N-08	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	0	0	0	4	69	0	25	0	8.176645e-01	0	56	0	25	2		0	0	0	0	0	2	0	0.878570	1	68	0	24	2		0	0	0	0	25	2	-8.735047	1	0	0	0		1	1	2	3	2.017676	0	0.100000	2.040000	0.110232	0.990000	0.420000	1.000000	1.000000	0.911306	0.990000	1	0.740000	1.000000
C2orf16	84226	broad.mit.edu	37	2	27804824	27804824	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:27804824G>C	ENST00000408964.2	+	1	5436	c.5385G>C	c.(5383-5385)gaG>gaC	p.E1795D	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16			47	Acute lymphoblastic leukemia(172;0.155)				GTCCCTCTGAGAGAAGCCATC	0.547000																								0							SO:0001583	missense			ENST00000408964.2	1	1	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.281825	0.23392	.	.	ENSG00000221843	ENST00000408964	T	0.05786	3.39	3.95	1.17	0.20885	.	.	.	.	.	T	0.07369	0.0186	L	0.53249	1.67	0.09310	N	1	P	0.38300	0.626	B	0.36504	0.226	T	0.24297	-1.0164	9	0.52906	T	0.07	.	7.9068	0.29767	0.2806:0.0:0.7194:0.0	.	1795	Q68DN1	CB016_HUMAN	D	1795	ENSP00000386190:E1795D	ENSP00000386190:E1795D	E	+	3	2	C2orf16	27658328	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.437000	0.21543	0.251000	0.21505	0.407000	0.27541	GAG		TCGA-IB-A5ST-01A-11D-A32N-08	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	0	0	0	27	836	0	186	0	0	0	1	0	186	2		0	0	0	0	0	2	1	1.000000	27	812	0	184	2		0	0	0	0	186	2	-2.589719	1	1	0	0		1	0	0	0	1.971007	0	0.100000	2.040000	0.082569	0.610000	0.410000	0.850000	0.600000	0.626812	0.610000	0	0.500000	0.740000
RBM15B	29890	broad.mit.edu	37	3	51430415	51430415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:51430415C>T	ENST00000323686.4	+	1	1685	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B			12					CGACCTGGTGCGGGACAGGAC	0.612000																								0							SO:0001583	missense			ENST00000323686.4	0	1	hg19	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846050	0.51164	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.18174	2.23	5.55	4.67	0.58626	.	.	.	.	.	T	0.37348	0.1000	L	0.57536	1.79	0.50313	D	0.999868	D	0.89917	1.0	D	0.77004	0.989	T	0.14924	-1.0455	9	0.87932	D	0	-16.0835	13.3329	0.60500	0.4055:0.5945:0.0:0.0	.	529	Q8NDT2	RB15B_HUMAN	W	529;202	ENSP00000313890:R529W	ENSP00000313890:R529W	R	+	1	2	RBM15B	51405455	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.873000	0.28052	1.329000	0.45376	0.655000	0.94253	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	0	0	0	5	462	0	133	0	5.208244e-01	0	145	0	133	2		0	0	0	0	0	2	1	0.934243	5	452	0	131	2		0	0	0	0	133	2	-2.733920	1	1	0	0		1	0	0	0	1.960797	0	0.100000	2.040000	0.077869	0.220000	0.080000	0.450000	0.200000	0.243404	0.220000	0	0.140000	0.330000
H2AFZ	3015	broad.mit.edu	37	4	100870830	100870830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:100870830G>A	ENST00000296417.5	-	2	288	c.71C>T	c.(70-72)gCc>gTc	p.A24V	RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z			5					CTGCAAGCCGGCTCTCTGCGA	0.567000																								0							SO:0001583	missense			ENST00000296417.5	0	1	hg19	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224399	0.95139	.	.	ENSG00000164032	ENST00000296417	D	0.87256	-2.23	3.33	3.33	0.38152	Histone-fold (2);Histone core (1);Histone H2A (3);	0.103484	0.64402	N	0.000003	D	0.96056	0.8715	H	0.99435	4.565	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	D	0.97952	1.0332	10	0.87932	D	0	-4.0732	14.8277	0.70125	0.0:0.0:1.0:0.0	.	24	P0C0S5	H2AZ_HUMAN	V	24	ENSP00000296417:A24V	ENSP00000296417:A24V	A	-	2	0	H2AFZ	101089853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.355000	0.90083	1.697000	0.51169	0.455000	0.32223	GCC		TCGA-IB-A5ST-01A-11D-A32N-08	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	0	0	0	6	744	0	173	1	9.839036e-01	2	943	0	173	2		0	0	0	0	0	2	1	0.963424	6	733	0	172	2		0	0	0	0	173	2	-2.035847	0	1	0	0		1	1	2	3	1.998437	0	0.100000	2.040000	0.106256	0.180000	0.070000	1.000000	0.160000	0.276290	0.180000	0	0.110000	0.310000
SLC34A2	10568	broad.mit.edu	37	4	25674740	25674740	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:25674740G>A	ENST00000382051.3	+	10	1130	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	SLC34A2_ENST00000503434.1_Silent_p.P359P|SLC34A2_ENST00000504570.1_Silent_p.P359P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2		SLC34A2/ROS1(14)	41		Breast(46;0.0503)			TCCACCTCCCGGATCTTGCTG	0.512000			T	ROS1	NSCLC										Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0							SO:0001819	synonymous_variant			ENST00000382051.3	1	1	hg19	CCDS3435.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	0	0	0	18	562	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	0.999981	19	556	0	143	2		0	0	0	0	144	2	-2.514101	1	1	121412	5	41	1	1	2	3	2.016602	0	0.100000	2.040000	0.110232	0.670000	0.390000	1.000000	0.620000	0.709165	0.670000	0	0.510000	1.000000
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1			50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)			GCTAGGGACCGTTGTCTGTGA	0.338000																								0							SO:0001583	missense			ENST00000310954.6	0	1	hg19	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261188	0.59431	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.50548	0.74	5.96	5.96	0.96718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000013	T	0.76026	0.3930	M	0.93898	3.47	0.32241	N	0.57269	D	0.89917	1.0	D	0.91635	0.999	D	0.84319	0.0515	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8477:0.1523	.	611	Q6ZQN7	SO4C1_HUMAN	W	611	ENSP00000309741:R611W	ENSP00000309741:R611W	R	-	1	2	SLCO4C1	101604366	0.980000	0.34600	0.263000	0.24496	0.635000	0.38103	3.947000	0.56652	2.832000	0.97577	0.655000	0.94253	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	0	0	0	11	630	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	0.998261	10	626	0	57	2		0	0	0	0	57	2	-2.353780	0	1	121402	7	42	1	0	1	1	1.992074	0	0.100000	2.040000	0.093199	0.340000	0.180000	0.570000	0.330000	0.364837	0.340000	0	0.250000	0.460000
AQPEP	0	broad.mit.edu	37	5	115351411	115351411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:115351411G>A	ENST00000357872.4	+	18	2829	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN									GAAGTTGGCCGGTATGTCGCA	0.408000																								0							SO:0001583	missense			ENST00000357872.4	0	1	hg19	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896123	0.33442	2.27E-4	3.49E-4	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.07908	3.15	5.6	0.743	0.18347	.	0.296928	0.24198	N	0.040657	T	0.05318	0.0141	N	0.17594	0.5	0.09310	N	1	D	0.61697	0.99	P	0.51550	0.673	T	0.19192	-1.0313	10	0.05833	T	0.94	.	4.4203	0.11477	0.3159:0.0:0.5388:0.1453	.	902	Q6Q4G3	AMPQ_HUMAN	Q	902;891	ENSP00000350541:R902Q	ENSP00000350541:R902Q	R	+	2	0	AC010282.1	115379310	0.005000	0.15991	0.032000	0.17829	0.747000	0.42532	0.827000	0.27421	-0.148000	0.11234	-0.471000	0.05019	CGG		TCGA-IB-A5ST-01A-11D-A32N-08	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1	0	0	0	4	215	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	0.889005	4	213	0	42	2		0	0	0	0	42	2	-2.772747	1	1	121412	16	42	1	0	1	1	1.992074	0	0.100000	2.040000	0.093199	0.390000	0.130000	0.830000	0.360000	0.428331	0.390000	0	0.240000	0.600000
DIAPH1	1729	broad.mit.edu	37	5	140908384	140908384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140908384C>T	ENST00000398557.4	-	22	3043	c.2903G>A	c.(2902-2904)cGt>cAt	p.R968H	DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R969H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1			23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTCACTCTTACGTAACTCCTC	0.448000																								0							SO:0001583	missense			ENST00000398557.4	0	1	hg19	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859456	0.32884	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.27	4.4	0.53042	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.224000	0.36815	N	0.002392	T	0.21550	0.0519	M	0.66439	2.03	0.53688	D	0.999978	B;B;B	0.28971	0.229;0.145;0.145	B;B;B	0.18561	0.022;0.022;0.022	T	0.04440	-1.0951	10	0.87932	D	0	.	9.2173	0.37355	0.0:0.8317:0.0:0.1683	.	911;959;968	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	965;911;944;959;960;968;969;956	ENSP00000373706:R965H;ENSP00000429282:R911H;ENSP00000381570:R944H;ENSP00000373709:R959H;ENSP00000381572:R960H;ENSP00000381565:R968H;ENSP00000253811:R969H;ENSP00000428268:R956H	ENSP00000253811:R969H	R	-	2	0	DIAPH1	140888568	0.432000	0.25554	0.794000	0.32065	0.295000	0.27426	1.344000	0.33941	1.209000	0.43321	-0.259000	0.10710	CGT		TCGA-IB-A5ST-01A-11D-A32N-08	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	0	1	5	311	0	68	1	7.398675e-01	20	139	0	68	2		0	0	0	0	0	2	1	0.937503	5	310	0	67	2		0	0	0	0	68	2	-3.055023	1	1	121004	2	33	1	0	1	1	1.992074	0	0.100000	2.040000	0.093199	0.330000	0.120000	0.670000	0.300000	0.362977	0.330000	0	0.210000	0.500000
ANKRD55	79722	broad.mit.edu	37	5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:55472007C>T	ENST00000341048.4	-	4	435	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55			34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)			TAAACTTGTGCGGCCATAAGC	0.542000																								0							SO:0001583	missense			ENST00000341048.4	0	1	hg19	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426908	0.96131	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.66460	-0.21;-0.21;-0.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	L	0.47190	1.495	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.76607	-0.2897	10	0.41790	T	0.15	.	18.5715	0.91137	0.0:1.0:0.0:0.0	.	95	B3KVT8	.	H	95;95;95;66;95	ENSP00000342295:R95H;ENSP00000424230:R95H;ENSP00000423507:R66H	ENSP00000342295:R95H	R	-	2	0	ANKRD55	55507764	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.485000	0.73625	2.462000	0.83206	0.563000	0.77884	CGC		TCGA-IB-A5ST-01A-11D-A32N-08	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	0	0	0	5	576	1	124		0	0	0	1	124	2		0	0	0	0	0	2	0	0.007354	5	570	1	122	17		0	0	0	1	124	2	-1.684063	0	1	121412	14	46	1	1	2	3	2.018291	0	0.100000	2.040000	0.110672	0.210000	0.070000	1.000000	0.180000	0.343860	0.210000	0	0.120000	1.000000
OTP	23440	broad.mit.edu	37	5	76932865	76932865	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:76932865G>A	ENST00000306422.3	-	2	1366	c.228C>T	c.(226-228)agC>agT	p.S76S	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox			13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)			GGTCTTTGGCGCTCACCGCCA	0.711000																								0							SO:0001819	synonymous_variant			ENST00000306422.3	1	1	hg19	CCDS4039.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2	0	0	0	8	264	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	0.988500	9	256	0	86	2		0	0	0	0	88	2	-9.014540	1	1	0	0		1	0	1	1	1.992074	0	0.100000	2.040000	0.093199	0.600000	0.280000	1.000000	1.000000	0.622886	0.600000	0	0.420000	0.820000
ANKRD34B	340120	broad.mit.edu	37	5	79855633	79855633	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:79855633T>C	ENST00000338682.3	-	5	878	c.206A>G	c.(205-207)tAc>tGc	p.Y69C		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B			28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)			CTCTAACAGGTATTTCACCAT	0.448000																								0							SO:0001583	missense			ENST00000338682.3	1	1	hg19	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063229	0.76187	.	.	ENSG00000189127	ENST00000338682	T	0.65916	-0.18	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.081459	0.50627	U	0.000101	T	0.72382	0.3453	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74948	-0.3490	10	0.72032	D	0.01	-14.1729	14.9417	0.70997	0.0:0.0:0.0:1.0	.	69	A5PLL1	AN34B_HUMAN	C	69	ENSP00000339802:Y69C	ENSP00000339802:Y69C	Y	-	2	0	ANKRD34B	79891389	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.900000	0.87376	2.201000	0.70794	0.459000	0.35465	TAC		TCGA-IB-A5ST-01A-11D-A32N-08	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	0	0	0	20	766	1	175		0	0	0	1	175	2		0	0	0	0	0	2	1	0.789149	19	758	1	175	16		0	0	0	1	175	2	-3.099789	1	1	0	0		1	0	1	1	1.992074	0	0.100000	2.040000	0.093199	0.500000	0.310000	0.740000	0.500000	0.522447	0.500000	0	0.400000	0.630000
TAS2R1	50834	broad.mit.edu	37	5	9629467	9629467	+	Silent	SNP	C	C	T	rs140696180		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:9629467C>T	ENST00000382492.2	-	1	996	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1			39					TAGACAGCAACGCGCTGATGG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000382492.2	0	1	hg19	CCDS3876.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2	0	0	0	8	299	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.989332	8	297	0	42	2		0	0	0	0	44	2	-8.646002	1	0	121412	6	40	1	1	2	3	2.018291	0	0.100000	2.040000	0.110672	0.600000	0.260000	1.000000	1.000000	0.646273	0.600000	0	0.400000	1.000000
MAP7	9053	broad.mit.edu	37	6	136742933	136742933	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:136742933G>A	ENST00000354570.3	-	2	482	c.72C>T	c.(70-72)ccC>ccT	p.P24P	MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Silent_p.P46P|MAP7_ENST00000438100.2_Silent_p.P46P|MAP7_ENST00000544465.1_Silent_p.P9P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7			33	Colorectal(23;0.24)				TGTAGCTGTCGGGTGCTACAG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000354570.3	0	1	hg19	CCDS5178.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	0	0	0	6	386	1	86	0	7.789148e-03	0	21	1	86	3		0	0	0	0	0	2	0	0.022908	6	381	1	85	16		0	0	0	1	86	2	-2.334696	0	1	0	0		1	1	2	3	2.016431	0	0.100000	2.040000	0.110232	0.360000	0.140000	1.000000	0.310000	0.461445	0.360000	0	0.230000	1.000000
ARID1B	57492	broad.mit.edu	37	6	157528497	157528497	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:157528497G>A	ENST00000350026.5	+	19	6184	c.6183G>A	c.(6181-6183)tcG>tcA	p.S2061S	ARID1B_ENST00000275248.4_Silent_p.S2056S|ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000346085.5_Silent_p.S2074S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)			81		Breast(66;0.000162)|Ovarian(120;0.0265)			GACCCAACTCGGTCCTGTCGC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000350026.5	1	1	hg19	CCDS5251.2																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	0	0	1	40	995	0	282	1	8.928402e-01	15	83	0	282	2		0	0	0	0	0	2	1	1.000000	39	980	0	276	2		0	0	0	0	282	2	-2.479587	0	1	121412	5	42	1	1	2	3	2.016431	0	0.100000	2.040000	0.110232	0.810000	0.570000	1.000000	1.000000	0.825805	0.810000	0	0.680000	1.000000
TNXB	7148	broad.mit.edu	37	6	32064921	32064921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:32064921C>T	ENST00000479795.1	-	3	849	c.709G>A	c.(709-711)Gca>Aca	p.A237T	TNXB_ENST00000375247.2_Missense_Mutation_p.A237T|TNXB_ENST00000375244.3_Missense_Mutation_p.A237T			P22105	TENX_HUMAN	tenascin XB			8					GAGAAGCCTGCCCGGCACACA	0.701000																								0							SO:0001583	missense			ENST00000479795.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.442	-0.898065	0.02472	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11277	3.88;3.88;2.79	4.22	0.161	0.14977	.	0.689881	0.12572	N	0.457242	T	0.02047	0.0064	L	0.31294	0.92	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.44528	-0.9322	10	0.44086	T	0.13	.	4.2281	0.10590	0.154:0.3014:0.452:0.0926	.	237	P22105-3	.	T	237	ENSP00000364393:A237T;ENSP00000364396:A237T;ENSP00000418248:A237T	ENSP00000364393:A237T	A	-	1	0	TNXB	32172899	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.163000	0.09997	-0.190000	0.10465	0.655000	0.94253	GCA		TCGA-IB-A5ST-01A-11D-A32N-08	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	0	0	0	4	85	0	16	0	9.135970e-02	0	9	0	16	2		0	0	0	0	0	2	1	0.889324	4	84	0	16	2		0	0	0	0	16	2	-3.381323	1	1	120824	1	20	1	0	1	1	1.992253	0	0.100000	2.040000	0.093656	0.900000	0.320000	1.000000	1.000000	0.819564	0.900000	1	0.560000	1.000000
LGSN	51557	broad.mit.edu	37	6	63990012	63990012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:63990012G>A	ENST00000370657.4	-	4	1477	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain			34					ACAAAATATCGAATAAAGGTT	0.378000																								0							SO:0001587	stop_gained			ENST00000370657.4	0	1	hg19	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373680	0.61624	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.7	3.86	0.44501	.	0.362303	0.32884	N	0.005523	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.5437	14.1084	0.65107	0.0:0.0:0.6109:0.3891	.	.	.	.	X	482	.	ENSP00000359691:R482X	R	-	1	2	LGSN	64047971	1.000000	0.71417	0.856000	0.33681	0.358000	0.29455	4.385000	0.59613	0.703000	0.31848	0.655000	0.94253	CGA		TCGA-IB-A5ST-01A-11D-A32N-08	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	0	0	0	11	372	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	0.998292	11	368	0	69	2		0	0	0	0	69	2	-2.908631	1	1	121412	3	40	1	1	2	3	2.016431	0	0.100000	2.040000	0.110232	0.640000	0.320000	1.000000	1.000000	0.679925	0.640000	0	0.450000	1.000000
HECW1	23072	broad.mit.edu	37	7	43484703	43484703	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:43484703G>A	ENST00000395891.2	+	11	2537	c.1932G>A	c.(1930-1932)gcG>gcA	p.A644A	HECW1_ENST00000453890.1_Silent_p.A644A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					CCAATGGCGCGGCCCAGGATG	0.711000																								0							SO:0001819	synonymous_variant			ENST00000395891.2	1	1	hg19	CCDS5469.2																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	0	0	6	160	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	0.965187	6	159	0	34	2		0	0	0	0	37	2	-8.782163	1	1	0	0		1	1	2	3	2.008968	0	0.100000	2.040000	0.108470	0.820000	0.330000	1.000000	1.000000	0.787144	0.820000	0	0.530000	1.000000
ANK1	286	broad.mit.edu	37	8	41519413	41519413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:41519413G>A	ENST00000347528.4	-	41	5608	c.5525C>T	c.(5524-5526)gCc>gTc	p.A1842V	ANK1_ENST00000396945.1_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000457297.1_Intron|RP11-930P14.1_ENST00000522388.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000396942.1_Missense_Mutation_p.A1842V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic			122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		CTCCTGGGCGGCATCGGCGCT	0.572000																								0							SO:0001583	missense			ENST00000347528.4	0	1	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223834	0.22457	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709	T;T;T;D;D;D;T	0.86432	-0.2;-0.18;-0.18;-1.71;-2.11;-2.12;-0.23	5.94	2.12	0.27331	.	0.199600	0.40144	N	0.001173	T	0.81645	0.4866	L	0.42245	1.32	0.53005	D	0.99996	P;B;B;B;B;B;B;P;P	0.39940	0.481;0.005;0.125;0.001;0.0;0.0;0.076;0.572;0.696	B;B;B;B;B;B;B;B;B	0.41946	0.137;0.002;0.056;0.0;0.0;0.001;0.042;0.371;0.173	T	0.76465	-0.2949	10	0.42905	T	0.14	.	8.182	0.31315	0.0:0.0672:0.2624:0.6704	.	117;1883;1680;1842;1842;1842;996;117;117	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.	V	1842;1842;1842;117;117;117;1883	ENSP00000339620:A1842V;ENSP00000289734:A1842V;ENSP00000380147:A1842V;ENSP00000428750:A117V;ENSP00000430368:A117V;ENSP00000319123:A117V;ENSP00000265709:A1883V	ENSP00000265709:A1883V	A	-	2	0	ANK1	41638570	0.851000	0.29673	0.459000	0.27081	0.000000	0.00434	0.325000	0.19628	0.502000	0.28037	-0.397000	0.06425	GCC		TCGA-IB-A5ST-01A-11D-A32N-08	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	0	0	0	6	405	0	119	0	4.636260e-03	0	6	0	119	2		0	0	0	0	0	2	1	0.963340	5	399	0	117	2		0	0	0	0	119	2	-2.810154	1	1	0	0		1	1	2	3	2.008365	0	0.100000	2.040000	0.108470	0.340000	0.130000	1.000000	0.290000	0.432034	0.340000	0	0.210000	0.650000
ADAMTS13	11093	broad.mit.edu	37	9	136310876	136310876	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:136310876G>A	ENST00000371929.3	+	21	3111	c.2667G>A	c.(2665-2667)acG>acA	p.T889T	ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000355699.2_Silent_p.T889T|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13			36					GCATCAGGACGGGGGCTCAAG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000371929.3	0	1	hg19	CCDS6970.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	0	0	0	6	277	0	84	0	2.018008e-03	0	3	0	84	2		0	0	0	0	0	2	1	0.963859	6	273	0	84	2		0	0	0	0	84	2	-3.318474	1	1	121364	1	28	1	0	0	0	1.974317	0	0.100000	2.040000	0.084435	0.430000	0.180000	0.820000	0.400000	0.463886	0.430000	0	0.290000	0.630000
PRUNE2	158471	broad.mit.edu	37	9	79320990	79320990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:79320990G>A	ENST00000376718.3	-	8	6323	c.6200C>T	c.(6199-6201)gCg>gTg	p.A2067V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1708V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CAAGTCAGGCGCGGCAGAGGC	0.512000																								0							SO:0001583	missense			ENST00000376718.3	0	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313854	0.05422	0.0	1.4E-4	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.42131	0.98;0.98	6.03	3.94	0.45596	.	0.708846	0.12837	N	0.435169	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.27606	-1.0069	10	0.05959	T	0.93	-5.9616	6.8158	0.23829	0.0987:0.0:0.5223:0.379	.	2067	Q8WUY3	PRUN2_HUMAN	V	2067;1708;2066	ENSP00000365908:A2067V;ENSP00000397425:A1708V	ENSP00000365908:A2067V	A	-	2	0	PRUNE2	78510810	0.011000	0.17503	0.005000	0.12908	0.012000	0.07955	1.895000	0.39778	1.500000	0.48636	0.655000	0.94253	GCG		TCGA-IB-A5ST-01A-11D-A32N-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	0	0	7	628	1	147	0	1.040939e-03	0	4	1	147	2		0	0	0	0	0	2	1	0.980019	7	622	0	147	2		0	0	0	1	147	2	-3.073847	1	1	120416	3	42	1	0	0	0	1.974317	0	0.100000	2.040000	0.084435	0.220000	0.090000	0.420000	0.210000	0.242698	0.220000	0	0.150000	0.320000
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4			13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)			AGGGGGTATGCGCGGCAGAGG	0.483000																								0							SO:0001583	missense			ENST00000375249.4	0	1	hg19	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC		TCGA-IB-A5ST-01A-11D-A32N-08	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	0	0	0	8	533	1	122	0	2.645105e-02	0	89	1	122	5		0	0	0	0	0	2	0	0.006463	7	526	2	120	22		0	0	0	1	122	2	-1.649369	0	1	121412	3	38	1	0	0	0	1.974317	0	0.100000	2.040000	0.084435	0.300000	0.140000	0.530000	0.280000	0.319337	0.300000	0	0.210000	0.420000
CXorf57	55086	broad.mit.edu	37	X	105855530	105855530	+	Missense_Mutation	SNP	G	G	A	rs146201497		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:105855530G>A	ENST00000372548.4	+	1	329	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57			31					TGTGCTGGCCGTCCAGAGGTA	0.567000																								0							SO:0001583	missense			ENST00000372548.4	0	1	hg19	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122698	0.37436	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80304	-1.36;-1.36	3.47	1.69	0.24217	Nucleic acid-binding, OB-fold-like (1);	0.292022	0.28338	N	0.015703	T	0.70518	0.3233	M	0.64997	1.995	0.26035	N	0.981682	P;P;B	0.36125	0.538;0.538;0.366	B;B;B	0.29942	0.109;0.109;0.035	T	0.58446	-0.7635	10	0.30078	T	0.28	-2.4941	7.0559	0.25099	0.233:0.0:0.767:0.0	.	74;74;74	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	74	ENSP00000361623:V74I;ENSP00000361628:V74I	ENSP00000361623:V74I	V	+	1	0	CXorf57	105742186	0.338000	0.24775	0.468000	0.27192	0.810000	0.45777	0.505000	0.22642	0.314000	0.23086	0.600000	0.82982	GTC		TCGA-IB-A5ST-01A-11D-A32N-08	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	0	0	0	6	529	0	105	0	5.750309e-04	0	3	0	105	2		0	0	0	0	0	2	1	0.964328	7	524	0	105	2		0	0	0	0	105	2	-2.875267	1	1	121410	1	40	1	0	1	1			0.100000	2.040000	0.100000	0.230000	0.090000	0.460000	0.220000	0.256315	0.230000	0	0.150000	0.350000
CXorf56	63932	broad.mit.edu	37	X	118699217	118699217	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:118699217G>A	ENST00000371594.4	-	1	180	c.102C>T	c.(100-102)tgC>tgT	p.C34C	CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56			10					CCATCTGGCCGCACAAACAGT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000371594.4	0	1	hg19	CCDS14579.1																																																																																				TCGA-IB-A5ST-01A-11D-A32N-08	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	5	581	0	138	0	8.869372e-02	1	46	0	138	2		0	0	0	0	0	2	1	0.934920	5	572	0	135	2		0	0	0	0	138	2	-1.975407	0	1	0	0		1	0	1	1			0.100000	2.040000	0.100000	0.180000	0.060000	0.370000	0.170000	0.200937	0.180000	0	0.110000	0.280000
ZNF645	158506	broad.mit.edu	37	X	22292036	22292036	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:22292036C>T	ENST00000323684.1	+	1	972	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645			27					TAACTCGGTTCGTAGCCAAGT	0.468000																								0							SO:0001583	missense			ENST00000323684.1	1	1	hg19	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684388	0.14907	.	.	ENSG00000175809	ENST00000323684	T	0.30448	1.53	2.42	-0.0632	0.13778	.	3.358530	0.02026	N	0.048193	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.56958	D	0.05	.	5.4112	0.16349	0.0:0.3033:0.0:0.6967	.	310	Q8N7E2	ZN645_HUMAN	C	310	ENSP00000323348:R310C	ENSP00000323348:R310C	R	+	1	0	ZNF645	22201957	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.443000	0.52907	-0.088000	0.12506	-0.296000	0.09543	CGT		TCGA-IB-A5ST-01A-11D-A32N-08	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	0	0	0	12	381	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	0.999106	12	378	0	92	2		0	0	0	0	95	2	-3.171695	1	1	0	0		1	0	1	1			0.100000	2.040000	0.100000	0.620000	0.340000	0.990000	1.000000	0.640135	0.620000	0	0.460000	0.810000
MXRA5	25878	broad.mit.edu	37	X	3242386	3242386	+	Missense_Mutation	SNP	G	G	A	rs146759954	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:3242386G>A	ENST00000217939.6	-	5	1494	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5			157		all_lung(23;0.00031)|Lung NSC(23;0.000946)			CTTCTTGGCCGTACTCTGACG	0.488000																								0							SO:0001583	missense			ENST00000217939.6	0	1	hg19	CCDS14124.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.72	1.724062	0.30593	2.61E-4	4.46E-4	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.75050	-0.9	3.63	3.63	0.41609	.	0.177406	0.26673	U	0.023082	T	0.80793	0.4691	M	0.76002	2.32	0.25976	N	0.982438	D	0.76494	0.999	P	0.57846	0.828	T	0.72874	-0.4160	10	0.72032	D	0.01	.	9.133	0.36857	0.1065:0.0:0.8935:0.0	.	447	Q9NR99	MXRA5_HUMAN	M	447	ENSP00000217939:T447M	ENSP00000217939:T447M	T	-	2	0	MXRA5	3252386	1.000000	0.71417	0.006000	0.13384	0.069000	0.16628	5.122000	0.64697	1.439000	0.47511	0.431000	0.28591	ACG		TCGA-IB-A5ST-01A-11D-A32N-08	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	0	0	0	10	805	0	178	0	2.198303e-01	0	65	0	178	2		0	0	0	0	0	2	1	0.996502	10	786	0	175	2		0	0	0	0	178	2	-2.023486	0	1	121412	91	54	1	0	1	1			0.100000	2.040000	0.100000	0.250000	0.120000	0.430000	0.240000	0.266293	0.250000	0	0.180000	0.340000
